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Chromosomal Aberrations
Wolf- Hirschhorn SyndromE
deletion in the p arm (chromosome#4)Immunodeficientmicrocephaly/ small brainshort philtrumSeisuresmuscle hypotoniarenal abnormalitiesdeafness
Cri Du Chat
Syndrome
deletion of p arm (chromosome#5)gastrointestinal and cardiac complicationsabnormal development of larynx and glottisoften mental retardedexcessive drooling“cry of the cat” cry like a cat
Jacobsen’s syndrome
deletion of a terminal region of chromosome#11bleeding disorderheart defectswide set eyeslow set of misshapen earslarge toes
Pallister- Killian
Syndrome
tetrasomy in the smaller arm of chromosome#1Epilepsyhypo/hyper pigmentationflat nosesupernumerary nipplespsychomotor retardation
Patau Syndrome
trisomic in chromosome#13polydactyl (6 fingers)cleft palatecutis apalasiakidney failures
IDIC 15 (Isodicentric 15)
with extra genetic material in chromosome#15delayed language developmentEpicanthal folds in the eyeSeizuressome are mentally retardate
TAYAG, Patricia Ann J.VILLANUEVA, Mila Zosima A. AAPD2BGeneticsLecDr. Los Banos
Edward’s Syndrome
trisomy for comosome#15kidney malformationarthrogryposis- joint abnormalitiesupturned noseunderdeveloped phalanges
Down Syndrome
trisomy in chromosome#21microgenia- small genitaloblique eye featuresmuscle hypotoniaintellectual disability
Cat Eye Syndrome
otrisomy/ tetrasomy in chromosome#22oabnormal obstruction of the anusoIris Coloboma- iris abnormalityoScoliosisohernias
Kline Felter’s Syndrome
--only in male--44xxy--small testicles--have long arms and legs--below level intelligence--developed breasts--rounded lips--dyslexia
Metafemale
xxx syndromebionic womengenerally normal due to barr bodiestaller and leanerearlier menstruationclaw learners
Turner Syndrome
•lack one sex chromosome•short stature•webbed neck•absence of menstral period•non-verbal disabilities
Jacob’s Syndrome
criminal syndromeaddtion of y chromosometall and leanantisocial/ uncontrol of temperhave severe acne problemshigh testosterone level