1. Chromosomal
Aberrations

2. Wolf-
Hirschhorn
SyndromE

3. deletion in the p arm (chromosome#4)
Immunodeficient
microcephaly/ small brain
short philtrum
Seisures
muscle hypotonia
renal abnormalities
deafness

5. Cri Du
Chat
Syndrome

6. deletion of p arm (chromosome#5)
gastrointestinal and cardiac complications
abnormal development of larynx and glottis
often mental retarded
excessive drooling
“cry of the cat” cry like a cat

8. Jacobsen’s
syndrome

9. deletion of a terminal region of
chromosome#11
bleeding disorder
heart defects
wide set eyes
low set of misshapen ears
large toes

11. Pallister-
Killian
Syndrome

12. tetrasomy in the smaller
arm of chromosome#1
Epilepsy
hypo/hyper pigmentation
flat nose
supernumerary nipples
psychomotor retardation

14. Patau
Syndrome

15. trisomic in
chromosome#13
polydactyl
(6 fingers)
cleft palate
cutis apalasia
kidney failures

17. IDIC 15
(Isodicentric 15)

18. with extra genetic material in
chromosome#15
delayed language development
Epicanthal folds in the eye
Seizures
some are mentally retardate

20. TAYAG, Patricia Ann J.
VILLANUEVA, Mila Zosima A.
AAPD2B
GeneticsLec
Dr. Los Banos

21. edward’s
Syndrome

22. trisomy for comosome#15
kidney malformation
arthrogryposis- joint
abnormalities
upturned nose
underdeveloped phalanges

24. Down
Syndrome

25. trisomy in chromosome#21
microgenia- small genital
oblique eye features
muscle hypotonia
intellectual disability

27. Cat Eye
Syndrome

28. otrisomy/ tetrasomy in
chromosome#22
oabnormal obstruction of the anus
oIris Coloboma- iris abnormality
oScoliosis
ohernias

30. Kline
felter’s
Syndrome

31. --only in male
--44xxy
--small testicles
--have long arms and legs
--below level intelligence
--developed breasts
--rounded lips
--dyslexia

33. Metafemale

34. xxx syndrome
bionic women
generally normal due to barr
bodies
taller and leaner
earlier menstruation
claw learners

35. Turner
Syndrome

36. •lack one sex chromosome
•short stature
•webbed neck
•absence of menstral period
•non-verbal disabilities

38. Jacob’s
Syndrome

39. criminal syndrome
addtion of y chromosome
tall and lean
antisocial/ uncontrol of temper
have severe acne problems
high testosterone level