39 year old female, 10 weeks pregnant, is concerned
about Downs Syndrome . Which antenatal tests will
Name some other antenatal markers used?
If mother is a translocation carrier, how much is the
risk to the offspring ?
Name the associated chromosomes with tranlocation?
Recurrence risk is highest with which translocation ?
Identify the syndrome and State the chromosomal
What is the phenotype in this syndrome ?
Mention the cardinal features of the syndrome
Any easy outpatient OPD procedure for the diagnosis
What’s the male version ?
Short stature, broad chest with wide
spacing of nipples,congenital
nails ,ovarian dyegenesis,cubitus
vulgus,short fourth metacarpel,horse
shoe kidney,bicupid aortic valve
Buccal smear for barr body
Which syndrome has this genotype ?
What is the phenotype ?
State associated salient features.
Male child with
identify the syndrome
What is the exact locus?
What is pattern of inheritance ?
Mention any another syndrome
with similar inheritance
Fragile X syndrome
Allelic expansion-change in the increasing size
of a particular DNA sequence from generations
Huntington disease, spinocerebellar
ataxia, myotonic dystrophy, DRPLA[dentato
rubro pallido luysian atrophy]
Identify the pattern of inheritance
Name 3 conditions of similar inheritance
Which is the affected sex ?what is the risk
of getting affected in each pregnancy ?
X – linked recessive
Hemophilia , color blindness , G6PD
deficiency , DMD, menkes kinky hair
Male ,the risk is 50% for male child in each
Identify the syndrome
Name the pattern of inheritance
Give 1 another example of similar inheritance
What will be the risk of inheritance to
offsprings in affected males with disease
Hypophosphatemic rickets, OTC
deficiency, Alport disease
All the daughters and none of the sons the
of an affected male have disease
Identify the diagnostic technique
Name 3 syndromes in which this technique
is used for diagnosis
Fluorescent In Situ Hybridization
Prader willi syndrome
Angel man syndrome
Miller Dicker syndrome
State 3 procedures for antenatal genetic
diagnosis ,also mention about the earliest
gestational age at which these tests can be
What is the risk of fetal loss ?
3 common diseases in which antenatal
diagnosis is available
7 year male child with hypotonia and hypogonadism
Identify the syndrome
Name the genetic
pattern of inheritance
Which is the other
syndrome related to
the same chromosome
Name 5 types of
What is the urinary
test for diagnosis
metabolites seen in
Name the main
What are the Xray