Autosomal Aberrations

AUTOSOMALAberrations

CRISTOBAL, Erica Joyce B.JARABE, Renee Beatriz P.AAPD2B

OBJECTIVESAt the end of the unit, the students should be able to:

1. Understand the importance of human karyotyping2. Characterize individuals with sex chromosome

aberrations3. Differentiate the types of autosomal aberrations,

and4. Illustrate and explain the different structural

abnormalities

UNIT V. Human Chromosomes and Chromosome Behavior

CHROMOSOMAL ABERRATIONS / ABNORMALITIES* * *

*It is the disruptions in the normal chromosomal content of a cell.

*Originates as a result of an error during meiosis (Non-Disjunction), specifically in ANAPHASE stage.

* * *

Wolf-Hirschhorn Syndrome

DELETION of the short arm of chromosome 4.

Physical Characteristics:*Short Philtrum*Immunodeficient*Microcephaly (Small Head Size)*Seizures *Muscle Hypotonia*Renal Anomalies*Deafness

Cri du chat

DELETION on the short arm of chromosome 5.

Cries like a CAT.

Physical Characteristics:*Excessive Drooling*Behavioral Problems*Often Mental Retarded*Exhibits Gastorintestinal and

Cardiac Complications*Abnormal Development of

Larynx and Glottis

Jacobsen’s syndrome

is a condition caused by the DELETION of a terminal region of chromosome 11.

Physical Characteristics:*Bleeding Disorder*Heart Defects*Wide Set Eyes*Low Ser Misshapen Ears*Large Toes

Pallister-killian syndrome

TETRASOMY in the smaller arm of chromosome 12.

2n+2 or 48 chromosomes

Physical Characteristics:*Hypo/Hyper Pigmentation*Epilepsy*High Foreheads*Flat nose*Supernumerary Nipples*Psychomotor Retardation

Patau syndrome

TRISOMIC in the chromosome 13.

47 chromosomes

Physical Characteristics:*Polydactyl*Cleft Palate*Cutis aplasia*Kidney Failures

IDIC 15 (Isodi Centic 15)

With extra genetic material in chromosome 15.

47 chromosomes

Physical Characteristics:*Epicanthal Folds in the Eye*Short Stature*Delayed Language Development*Seizures*Some are Mentally Retarded

Edward’s syndrome

TRISOMY 18.

Physical Characteristics:*Upturned Nose*Kidney Malformations*Omphalocele*Arthrogryposis*Microcephaly*Underdeveloped Phalanges

Down Syndrome

With extra genetic material in chromosome 15.47 chromosomes

Physical Characteristics:*Epicanthal Folds in the Eye*Short Stature*Delayed Language Development*Seizures*Some are Mentally Retarded

Cat eye syndrome

TRISOMY/TETRASOMY 22.

Physical Characteristics:*Iris Coloboma*Slant Opening of the Eyelids*Abnormal Obstruction of the Anus*Scoliosis*Hernias