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