DOWN SYNDROME / TRISOMY 21

Down syndrome (trisomy 21, 47,XX+21 or 47,XY+21): numerical chromosomal abnormality, autosomal
trisomy. Features are
 Delayed developmental milestones
 Mental retardation
 Hypotonia
 Brachycephaly
 Open mouth & protruding tongue
 Upward slant of palpebral fissures
 Inner epicanthic folds
 Small nose with flat nasal bridge
 Short neck
 Simian crease in palm
 Wide gap between 1 st & 2 nd toes
 Congenital heart defects – septal defects
 Infertility in male
 Fertility rare in female
KLINEFELTER SYNDROME (SE)
Klinefelter syndrome (47,XXY): numerical chromosomal abnormality, sex chromosomal trisomy.
Features are
 Tall & slim
 I.Q. variable (85 to 90)
 Hypogonadism
 Hypogenitalism
 Gynaecomastia
 Low testosterone values
 Infertility
 Poor 2° sexual features
 Behavioral problems
 Karyotype: 47,XXY - 80%, 48,XXXY or 46,XY/47,XXY - 20%.

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