cytogenetic method prenatally

3.  Prenatal –pregnancies involve in age of >35 years
or old
 To confirm any known chromosomal syndrome or
fetal ultrasound indicates abormality
 Any psychomotor problems with or without
dysmorphic features
 Abnormalities of sexual organs (ambiguous
genitalia
 In females with short stature or amenorrea
 Any miscarriage or abortions
 Family history of chromosomal abnormality

4.  KARYOTYPING
 INSITU HYBRIDIZATION
 FLORESCENCE INSITU HYBRIDIATION
 SPECTRAL KARYOTYPING
 COMPARETIVE GENOMIC
HYBRIDIZATION

5.  AMNIOTIC FLUILD -20ML
 CHORIONIC VILLI-25MG from chorion
frondosum
 PUBS(percutaneous umblical blood
sampling)

6.  NUMERICAL – karyotype with abnormal No.
of cromosomes including lossing or gaining
chromosomes
 STRUCTURAL – alterations in structure
including loss ,gain or rearrangments of
segments of chromosome

7.  DOWN SYNDROME – trisomy 21 , mental retardation
, maternal age has high influence
 EDWARD SYNDROME – trisomy18,47xyxx+18
 PATAU SYNDROME – trisomy13 ,47xy+13
 TURNERS SYNDROME – 45X ,XO
 KLINEFELTERS SYNDROME – 47XXY
 PENTA X SYNDROME
 CRIDUCHAT SYNDROME – deletion of short arm of
chromosome 5
 PRADER WILLI SYNDOME -15Q deletion
 ANGELMAN SYNDROME – deletion of 15q11