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Trisomy Made Easy

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66 views

Trisomy Made Easy

best

Uploaded by

hellodrvigneshwar
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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GENOTYPE

INCIDENCE
ETIOLOGY

VIABILITY

DOWNS
TRISOMY 21 ( persons
drinking age is 21)
1 in 700
95%- meiotic non
disjunction(
maternal age1:1500
<20 yrs , 1:25>45 yrs )
4%- robertsonian
translocation
1%- mosaicism (mom
not responsible , its a
post fertilization
mitotic error )
1st MC viable
chromosomal
disorder( live birth)
mcc of death is resp
infections & CHDS

EDWARD
TRISOMY 18(age for
election/ no 8 starts
with E)
1 in 8000

PATAU
TRISOMY 13 (age of
puberty is 13)

2nd mc viable
chromrmosomal
disorder -- death
within 1 yr of birth .

Death within 1 yr of
birth

1 in 15,000

CLINICAL FEATURES
Severe MR+
MR +(mental
retardation- lovable
idiots)- majority have
a an mild mr ( IQ of
50-70 ) or severe mr(
iq of 20-50)
Muscle hypotonia at
birth (MCC of floppy
baby syndrome is
downs VS 2mcc is
infant botulism)

Feet gap b/w 1st and


2nd toe ( sandals foot)
Hand simian /single
palmar crease .
Facial problems-flat
facies, prominent
epicanthal folds,
upslanting of
palpebral fissures ,

Severe MR+
Rocker bottom feet
Rocker bottom feet
CUTIS APLASIA
Low set Ears ( EEdward)
Clenched hands with
overlapping fingers

cleft( liP + Palate)


holoProsencephaly
Polydactyly

Prominent occiput (
king Edward has a
crown on his head so
prominent)
ASD
VSD
Micrognathia

Micropthalmia,
microcephaly

Omphalocoele ,
esophageal atresia .
Cystic kidneys ,
omphalocoele

macroglossia with
protuberant tongue
(mongoloid facies or
flat facial profile )
Cardiac problemsendocardial cushion
defects > VSD
>septum primum type
of ASD ( but septum
secundum mcc of asd
if not downs) > TOF >
PDA
GI problems
duodenal atresia ,
hirschsprung disease,
tracheoesophageal
fistula .
Eye iris brushfield
spots
Haematoonco
problems- ALL and
AML(M7)
Neurological early
onset alzheimers
before 45 yrs. ( chr
21 codes for amyloid
precursor protein )

USG ( 1ST TRIMESTER )

Other
hypothyroidism , lung
infections , diabetes
mellitus , infertility in
both sex , Atlantoaxial
instability ( danger of
spinal cord
compression )
Increased nuchal
translucency &
hypopastic nasal bone

Increased nuchal
translucency

BIOCHEMISTRY
PAPP-A
1ST
TRIMESTER

PAPP-A
hcg(free)

Decreased
Increased

Decreased
Decreased

Decreased
Decreased

QUAD SCREEN

AFP
Estriol
hcg
INHIBIN A

LOW
LOW
HIGH
HIGH

Decreased
Low
decreased
Unchanged/
decreased

Increased
Normal
Normal
normal

PAPP-A--- pregnancy associated plasma protein


A E H -I --- ORDER OF MARKERS ( ALPHABETICAL ORDER )

TURNERS- low , low , very high , very high ( A-E-H-I)

Mcc of genetic cause of mental retardation downs syndrome > fragile x syndrome
Mcc of mental retardation in a child ( in US )- fetal alcohol syndrome (h/o- mother should be a chronic
alcoholic)

Dr.VIGNESH,

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