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8/3/2019 Chromosomes and Chromosome Abnormalities
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CHROMOSOMES
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What Are
Chromosomes? Rod shaped structuresmade of DNA & Protein
DNA stores thegenetic information thatcells will use
Proteins- sphere shapedstructures that the DNAwraps around
Proteins
DNA
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Chromosome Shape
Centromere
Chromatids
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CENTROMERES/ CHROMATIDS
Centromere- holds the chromatidstogether
Chromatids- identical sides of thechromosomes
Contain same genetic information on bothsides
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Chromatin
Chromososomes are only present
during cell division. In
between cell division
chromosomes are unraveled and
called Chromatin
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PROKARYOTIC VS EUKARYOTICCHROMOSOMES
ProkaryoticChromosomescircular, smaller, NOT
in Nucleus
Eukaryotic Larger,rod shaped, inNucleus
Chromosome
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Chromosome Numbers
Organism # ofchromosome
Fruit Fly 8
Carrot & Lettuce 18
Cat 32
Earthworm 36
Human 46
Gorilla 48
Sand Dollar 52
Adders Tongue Fern 1262
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Chromosome Numbers
Chromosome Genes Total base pairsSequenced base
pairs
1 4,220 247,199,719 224,999,719
2 1,491 242,751,149 237,712,649
3 1,550 199,446,827 194,704,827
4 446 191,263,063 187,297,063
5 609 180,837,866 177,702,766
6 2,281 170,896,993 167,273,993
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Chromosome Numbers
7 2,135 158,821,424 154,952,424
8 1,106 146,274,826 142,612,826
9 1,920 140,442,298 120,312,298
10 1,793 135,374,737 131,624,737
11 379 134,452,384 131,130,853
12 1,430 132,289,534 130,303,534
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Chromosome Numbers
13 924 114,127,980 95,559,980
14 1,347 106,360,585 88,290,585
15 921 100,338,915 81,341,915
16 909 88,822,254 78,884,754
17 1,672 78,654,742 77,800,220
18 519 76,117,153 74,656,155
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Chromosome Numbers
19 1,555 63,806,651 55,785,651
20 1,008 62,435,965 59,505,254
21 578 46,944,323 34,171,998
22 1,092 49,528,953 34,893,953
X (sexchromosome)
1,846 154,913,754 151,058,754
Y (sexchromosome)
454 57,741,652 25,121,652
Total 32,185 3,079,843,747 2,857,698,560
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c s more comp ex nterms of functions &
intelligence?Adders Tongue Fern
OR
Human
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OK Bad Example
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Two Types ofChromosomes
SEX Chromosomes
Determine the gender of the individual
Carry few other traits 2 of the 46 chromosomes
AUTOSOMES Carry most of the traits that we inherit
44 of the 46 chromosomes
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SEX Chromosomes
XX =
XY =
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HOMOLOGOUSCHROMOSOMES
A pair of autosomes that have the identical traitfor a certain characteristic (eye color).
You receive one of the homologous pairs from
your father and one homologous pair from yourmother
Humans have 44 autosomes (minus the 2 sexchromosomes) so they have 22 pairs of
homologous autosomes Homologous chromosomes are the same size
and shape
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KARYOTYPE A picture taken from a microscope of all the
chromosomes within a cell. The chromosomesare then arranged in homologous pairs andgiven a set of numbers
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KARYOTYPE
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KARYOTYPE
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Diploid vs Haploid Cells
Diploid Haploid
Description Both sets ofhomologous
chromosomes present
Only one of eachhomologous
chromosomepresent
Type of Cell All cells but sexcells (egg or
sperm)
Only sex cells-Egg or Sperm
Abbreviation 2n 1n
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Chromosomal Abnormalities
chromosomeanomaly, abnormality or aberration reflects anatypical number of chromosomes or a structuralabnormality in one or more chromosomes.
A chromosome anomaly may be detected orconfirmed in this manner. Chromosomeanomalies usually occur when there is an error
in cell division following meiosis or mitosis.There are many types of chromosomeanomalies. They can be organized into twobasic groups, numerical and structuralanomalies.
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Numerical Anomalies Aneuploidy is an abnormal number
of chromosomes, and is a type of chromosomeabnormality.
An extra or missing chromosome is a common
cause of genetic disorders (birth defects). Somecancer cells also have abnormal numbers ofchromosomes.
Aneuploidy occurs during cell division when the
chromosomes do not separate properly betweenthe two cells. Chromosome abnormalities occurin 1 of 160 live births. The most common extrachromosomes among live birthsare 21, 18 and 13
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Numerical Anomalies
Polysomy is a condition in which anorganism has at least onemore chromosome than normal. There maybe three or more copies of the chromosome
rather than the expected two copies.
Polysomy is usually caused by non-disjunction (the failure of a pair
of homologous chromosomes to separate)during meiosis, but may also be due to atranslocation mutation.
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Numerical Anomalies Monosomy is a form of aneuploidy with the
presence of only one chromosome (instead of thetypical two in humans) from a pair. Partialmonosomy occurs when only a portion of thechromosome has one copy, while the rest has two
copies.
Deletion (also called gene deletion, deficiency,or deletion mutation) is a mutation in which a part
of a chromosome or a sequence of DNA is missing.Deletion is the loss of genetic material. Any numberof nucleotides can be deleted, from a single base toan entire piece of chromosome. Deletions can becaused by errors in chromosomal
crossover during meiosis.
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Polysomies Down syndrome or trisomy 21, is
a chromosomal condition caused by thepresence of all or part of an extra 21stchromosome.
The effects and extent of the extra copy varygreatly among people, depending on genetichistory, and pure chance. The incidence ofDown syndrome is estimated at 1 per 733 births,although it is statistically more common witholder parents due to increased mutagenicexposures upon some older parents'reproductive cells.
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Down Syndrome
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Polysomies Trisomy 18 (T18) (also known as Trisomy
E or Edwards syndrome) is a geneticdisorder caused by the presence of all or part ofan extra 18th chromosome.
The incidence of the syndrome is estimated asone in 3,000 live births.[2] The incidenceincreases as the mother's age increases. Thesyndrome has a very low rate of survival,resulting from heart abnormalities, kidneymalformations, and other internal organdisorders.
http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Incidence_(epidemiology)http://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Incidence_(epidemiology)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorder8/3/2019 Chromosomes and Chromosome Abnormalities
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Edwards Syndrome
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Polysomies Patau syndrome, also known as trisomy
13 and trisomy D. Most cases of Patausyndrome are not inherited, but occur as randomevents during the formation of reproductive cells(eggs and sperm).
An error in cell division called non-disjunction can result in reproductive cells withan abnormal number of chromosomes.
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Pataus Syndrome
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Polysomies Trisomy 9 is a chromosomal disorder caused by having
three copies (trisomy) of chromosome number 9.
Symptoms vary, but usually result in dysmorphisms inthe skull, nervous system, and mental retardation.
Dysmorphisms in the heart, kidneys, andmusculoskeletal system may also occur. An infant withcomplete trisomy 9 surviving 20 days after birth showedclinical features including a small face, low set ears, upslanting palpebral fissures, high arched palate,
short sternum, overlapping fingers, limited hipabduction, rocker bottom feet, heart murmurs and also awebbed neck
http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Dysmorphismhttp://en.wikipedia.org/wiki/Human_skullhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Hearthttp://en.wikipedia.org/wiki/Kidneyshttp://en.wikipedia.org/wiki/Musculoskeletalhttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palatehttp://en.wikipedia.org/wiki/Human_sternumhttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Human_sternumhttp://en.wikipedia.org/wiki/Palatehttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Musculoskeletalhttp://en.wikipedia.org/wiki/Kidneyshttp://en.wikipedia.org/wiki/Hearthttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Human_skullhttp://en.wikipedia.org/wiki/Dysmorphismhttp://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorder8/3/2019 Chromosomes and Chromosome Abnormalities
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Trisomy 9
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Trisomy 8
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Polysomies Cat Eye Syndrome (aka. CES) is a rare
condition caused by the short arm and a smallsection of the long arm of human Chromosome22 being present three (trisomic) or four times(tetrasomic) instead of the usual two times. The
term "Cat Eye" syndrome was coined becauseof the particular appearance of the eyes of somepatients. However, over half of the CES patientsin the literature do not present with this trait.
http://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Tetrasomyhttp://en.wikipedia.org/wiki/Tetrasomyhttp://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Chromosome_228/3/2019 Chromosomes and Chromosome Abnormalities
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Polysomies
Trisomy 16 is a chromosomalabnormality in which there are threecopies of chromosome 16 rather than two.It is the most common chromosomalcause of miscarriage during the firsttrimester of pregnancy.
http://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Miscarriagehttp://en.wikipedia.org/wiki/Pregnancyhttp://en.wikipedia.org/wiki/Pregnancyhttp://en.wikipedia.org/wiki/Miscarriagehttp://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormality8/3/2019 Chromosomes and Chromosome Abnormalities
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Monosomies and Deletions
Cri du chat syndrome, also knownas chromosome 5p deletion syndrome, 5pminus syndrome or Lejeunes syndrome, is arare genetic disorder due to a missing part
of chromosome 5. Its name is a French term(cat-cry or call of the cat) referring to thecharacteristic cat-like cry of affected children.
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Monosomies and DeletionsAbout 1/3 of children lose the cry by age 2. Other
symptoms of cri du chat syndrome may include:
feeding problems because of difficulty swallowingand sucking.
low birth weight and poor growth. severe cognitive, speech, and motor delays.
behavioral problems such as hyperactivity,aggression, tantrums, and repetitive movements.
unusual facial features which may change over time.
excessive drooling.
constipation.
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Cri du Chat
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Monosomies and Deletions
Williams syndrome is a rare neurodevelopmentaldisorder. It is caused by a deletion of about 26genes from the long arm of chromosome 7
The most common symptoms of Williams syndromeare mental disability, heart defects, and unusualfacial features. Other symptoms include failure togain weight appropriately in infancy and low muscletone. Most individuals with Williams syndrome arehighly verbal and overly sociable, having what hasbeen described as a "cocktail party" typepersonality, and exhibit a remarkable blend ofcognitive strengths and weaknesses.
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Williams Syndrome
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Monosomies and Deletions
DiGeorge Syndrome is a syndrome caused bythe deletion of a small piece of chromosome 22.
Characteristic signs and symptoms may include
birth defects such as congenital heart disease,defects in the palate, most commonly related toneuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities,
mild differences in facial features, andrecurrent infections due to the abnormalities inthe T-cells.
http://en.wikipedia.org/wiki/Chromosome_22_(human)http://en.wikipedia.org/wiki/Infectionhttp://en.wikipedia.org/wiki/Infectionhttp://en.wikipedia.org/wiki/Chromosome_22_(human)http://en.wikipedia.org/wiki/Chromosome_22_(human)http://en.wikipedia.org/wiki/Chromosome_22_(human)8/3/2019 Chromosomes and Chromosome Abnormalities
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DiGeorge Syndrome
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Monosomies and Deletions Jacobsen Syndrome, also known as 11q deletion
disorder, is a rare congenital disorder resulting fromdeletion of a terminal region of chromosome 11.
Heart defects
Mild to severe intellectual disabilities Low-platelets (thrombocytopenia)
Facial/skeletal (dysplasia)
Wide-set eyes caused by trigonocephaly
Folding of the skin near the eye (epicanthus)
Short, upturned nose (anteverted nostrils) Thin lips that curve inward
Displaced receding chin (retrognathia)
Low-set, misshapen ears
Permanent upward curvature of the pinkie and ring fingers (camptodactyly)
Large great toes/Hammer toes
http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Thrombocytopeniahttp://en.wikipedia.org/wiki/Dysplasiahttp://en.wikipedia.org/wiki/Trigonocephalyhttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Retrognathiahttp://en.wikipedia.org/wiki/Camptodactylyhttp://en.wikipedia.org/wiki/Hammer_toehttp://en.wikipedia.org/wiki/Hammer_toehttp://en.wikipedia.org/wiki/Camptodactylyhttp://en.wikipedia.org/wiki/Retrognathiahttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Trigonocephalyhttp://en.wikipedia.org/wiki/Dysplasiahttp://en.wikipedia.org/wiki/Thrombocytopeniahttp://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorder8/3/2019 Chromosomes and Chromosome Abnormalities
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Jacobsen Syndrome
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Monosomies and Deletions Jacobsen Syndrome, also known as 11q deletion
disorder, is a rare congenital disorder resulting fromdeletion of a terminal region of chromosome 11.
Heart defects
Mild to severe intellectual disabilities
Low-platelets Facial/skeletal
Wide-set eyes caused by
Folding of the skin near the eye
Short, upturned nose
Thin lips that curve inward
Displaced receding chin
Low-set, misshapen ears
Permanent upward curvature of the pinkie and ring fingers
Large great toes/Hammer toes
http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorder8/3/2019 Chromosomes and Chromosome Abnormalities
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Monosomies (Sex Linked) Sex Linked anomalies in the sex
chromosomes (XY)
Turner syndrome encompasses several
conditions in human females, of whichmonosomy X (absence of an entire sexchromosome. It is a chromosomal abnormality inwhich all or part of one of the sexchromosomes is absent.
http://en.wikipedia.org/wiki/Femalehttp://en.wikipedia.org/wiki/Monosomyhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Monosomyhttp://en.wikipedia.org/wiki/Female8/3/2019 Chromosomes and Chromosome Abnormalities
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Monosomies (Sex Linked) There are characteristic physical abnormalities, such
as short stature, swelling, broad chest, lowhairline, low-set ears, and webbed necks. Girls withTurner syndrome typically experience gonadaldysfunction (non-working ovaries), which results
in amenorrhea (absence of menstrual cycle)and sterility. Congenital heartdisease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems,hearing concerns, and many autoimmune diseases.
Finally, a specific pattern of cognitive deficits is oftenobserved, with particular difficulties in visiuospatial,mathematical, and memory areas
http://en.wikipedia.org/wiki/Short_staturehttp://en.wikipedia.org/wiki/Lymphoedemahttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Hypothyroidismhttp://en.wikipedia.org/wiki/Hormonehttp://en.wikipedia.org/wiki/Thyroidhttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Ophthalmologyhttp://en.wikipedia.org/wiki/Memoryhttp://en.wikipedia.org/wiki/Memoryhttp://en.wikipedia.org/wiki/Ophthalmologyhttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Thyroidhttp://en.wikipedia.org/wiki/Hormonehttp://en.wikipedia.org/wiki/Hypothyroidismhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Lymphoedemahttp://en.wikipedia.org/wiki/Short_staturehttp://en.wikipedia.org/wiki/Short_staturehttp://en.wikipedia.org/wiki/Short_stature8/3/2019 Chromosomes and Chromosome Abnormalities
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Turners Syndrome
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Polyploidy (Sex Linked) Klinefelter syndrome, 46/47, XXY, or XXY
syndrome is a condition in which human maleshave an extra X chromosome. While femaleshave an XX chromosomal makeup, and malesan XY, affected individuals have at least two X
chromosomes and at least one Y chromosome.Because of the extra chromosome, individualswith the condition are usually referred to as"XXY Males", or "47, XXY Males
http://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosome8/3/2019 Chromosomes and Chromosome Abnormalities
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Polyploidy (Sex Linked) Klinefelter syndrome is the most common sex
chromosome disorder in malesand the secondmost common condition caused by the presenceof extra chromosomes. The condition exists inroughly 1 out of every 500-650 males.
Principal effects include hypogonadism andreduced fertility. A variety of other physical andbehavioral differences and problems arecommon, though severity varies and many boysand men with the condition have few detectablesymptoms.
http://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/Fertilityhttp://en.wikipedia.org/wiki/Fertilityhttp://en.wikipedia.org/wiki/Hypogonadism8/3/2019 Chromosomes and Chromosome Abnormalities
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Kleinfelters Syndrome
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Polyploidy (Sex Linked) 48,XXYY syndrome is a sex
chromosome anomaly in which males have anextra X and Y chromosome.
The appearance of at least one Y chromosomemakes a male. Therefore, XXYY only affectsmales. Males affected with XXYY syndromehave 48 chromosomes instead of the typical 46
It is estimated that XXYY affects one in every18,000-40,000 male births
http://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosome8/3/2019 Chromosomes and Chromosome Abnormalities
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XXYY Syndrome Developmental delays
Speech impairment
Behavior outburst & mood swings
Learning disabilities
Intellectual impairment Autism spectrum disorders
Tall
Scoliosis
Low muscle tone Flat feet
Sterility
Delayed sexual development
http://en.wikipedia.org/wiki/Speech_impairmenthttp://en.wikipedia.org/wiki/Mood_swingshttp://en.wikipedia.org/wiki/Learning_disabilityhttp://en.wikipedia.org/wiki/Intellectual_impairmenthttp://en.wikipedia.org/wiki/Autism_spectrumhttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Muscle_tonehttp://en.wikipedia.org/wiki/Flat_feethttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Flat_feethttp://en.wikipedia.org/wiki/Muscle_tonehttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Autism_spectrumhttp://en.wikipedia.org/wiki/Intellectual_impairmenthttp://en.wikipedia.org/wiki/Learning_disabilityhttp://en.wikipedia.org/wiki/Mood_swingshttp://en.wikipedia.org/wiki/Speech_impairment8/3/2019 Chromosomes and Chromosome Abnormalities
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XXYY Syndrome
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Polyploidy (Sex Linked) Triple X syndrome is a form
of chromosomal variation characterized by thepresence of an extra X chromosome ineach cell of a human female. The conditionalways produces females, with an XX pair of
chromosomes, as well as an additionalchromosome.
Triple X syndrome most often causes nounusual physical features or medical problems.
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Triple X Syndrome But there are rare cases when a female with
Triple X syndrome is affected by changes suchas tall stature, behavioral problems, clumsiness,poor coordination, midfacial hypoplasia, wide-seteyes, epicanthic fold, amenorrhea, posteriorly
rotated ears, small head, long head, small lowerjaw, expressionless face, prominentforehead, enamel hypoplasia, widely spacednipples, small hands, small
feet, kyphosis, lordosis, reduced muscle tone,ovarian failure, mental retardation, and infertility.There are also signs of learning and speechdisabilities.
http://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Kyphosishttp://en.wikipedia.org/wiki/Lordosishttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Lordosishttp://en.wikipedia.org/wiki/Kyphosishttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Hypoplasia8/3/2019 Chromosomes and Chromosome Abnormalities
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Polyploidy (Sex Linked) XXXX syndrome (also called tetrasomy
X, quadruple X, or 48, XXXX) is arare chromosomal disorder caused by the presenceof four X chromosomes. This condition occurs onlyin females, as there are no Y chromosomes present.
Due to the variability of symptoms, some tetrasomyX girls are able to function normally, whereas otherswill need medical attention throughout their lives.Traditionally, treatment for tetrasomy X has beenmanagement of the symptoms and support forlearning. Most girls are placed on estrogentreatment to induce breast development, arrestlongitudinal growth, and stimulate bone formation toprevent osteoporosis.
http://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/Chromosome_abnormalities8/3/2019 Chromosomes and Chromosome Abnormalities
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XXXX / Tetrasomy X Symptoms of tetrasomy X are highly variable,
ranging from relatively mild to severe. Physically,tetrasomy X patients tend to have distinctivefacial features such as epicanthal folds, flatnasal bridges, upslanting palpebral fissures,
midface hypoplasia, small mouths, cleft or higharched palates, delayed or absent teeth, orenamel defects. The majority have also beenreported as being longer and taller. Many also
show joint and muscle tone abnormalities,including hypotonia and joint looseness in thehips. Skeletal problems may also be present,including abnormal curvatures of the spine.
http://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Hypotoniahttp://en.wikipedia.org/wiki/Hypotoniahttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Epicanthal_fold8/3/2019 Chromosomes and Chromosome Abnormalities
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XXXX / Tetrasomy X
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Polyploidy (Sex Linked) XYY syndrome is an aneuploidy (abnormal
number) of the sex chromosomes in whicha human male receives an extra Y-chromosome,giving a total of 47 chromosomes instead of themore usual 46. This produces
a 47,XYY karyotype. 47,XYY boys have an increased risk of learning
difficulties (in up to 50%), and delayed speechand language skills.
http://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Aneuploidy8/3/2019 Chromosomes and Chromosome Abnormalities
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XYY Syndrome Most often, the extra Y-chromosome causes no
unusual physical features or medical problems. 47,XYY boys have an increased growth velocity
during earliest childhood, with an average finalheight approximately 7 cm (3 in) above expectedfinal height.
Testosterone levels (prenatally and postnatally)are normal in 47,XYY males.
Most 47,XYY males have normal sexualdevelopment and usually have normal fertility.
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Polyploidy (Sex Linked) 49, XXXXX syndrome (also called pentasomy
X or 49,XXXXX) is the presence of threeadditional X chromosomes.
Approximately 25 females have been describedin medical literature worldwide with thisextremely rare condition.
XXXXX syndrome causes mental, growth, andmotor retardation. There is occasional delayedpuberty.
Recent observations have indicated an averageof a 10 to 15 IQ point decrease for each extra Xchromosome. Thus, the average IQ of XXXXXindividuals tends to be between 55 and 70.
http://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosome8/3/2019 Chromosomes and Chromosome Abnormalities
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49, XXXXX Syndrome XXXXX syndrome is associated
with microcephaly (undersizedskull), micrognathia (undersized jaw), and roundface. The ears are generally low-set andmalformed. Eyes are upslanting and show
palpebral fissures, hypertelorism,and strabismus. Usually the nose is shaped witha broad and depressed nasal bridgeand epicanthus, with the mouth having
a cleft and highly arched palate, dentalabnormalities, and thick, furrowed, and evertedlips.
http://en.wikipedia.org/wiki/Microcephalyhttp://en.wikipedia.org/wiki/Micrognathiahttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Hypertelorismhttp://en.wikipedia.org/wiki/Strabismushttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Strabismushttp://en.wikipedia.org/wiki/Hypertelorismhttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Micrognathiahttp://en.wikipedia.org/wiki/Microcephaly8/3/2019 Chromosomes and Chromosome Abnormalities
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49, XXXXX Syndrome The heart is usually affected by patent ductus
arteriosus, atrial septal defect, ventricular septaldefect, and aortic dextroposition. There isabnormal lobulation of the lungsand neonatal asphyxia. The ovaries are
abnormally shaped with a small uterus andkidney hypoplasia.
d
http://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/wiki/Lobulationhttp://en.wikipedia.org/wiki/Neonatalhttp://en.wikipedia.org/wiki/Asphyxiahttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Asphyxiahttp://en.wikipedia.org/wiki/Neonatalhttp://en.wikipedia.org/wiki/Lobulationhttp://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosus8/3/2019 Chromosomes and Chromosome Abnormalities
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49, XXXXX Syndrome
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