Trisomy 13, XX
Patau Syndrome. The karyotype here demonstrates trisomy 13 (47, XX, +13).
It is rare for fetuses with this condition to go to term, so it occurs
in only 1 in 15,000 live births. It is rare for babies to survive for very
long if liveborn because of the multitude of anomalies that are usually
present. Forty five percent die within the first month, 90% by six months
and less than 5% reach 3 years. There is severely abnormal cerebral functions
and virtually always leads to death in early infancy. This baby has very
pronouced clefts of the lip and palate, broad nose, small cranium,
polydactyl, deafness, and nonfunctional
eyes. Heart defects and severe mental retardation are also part of the
clinical picture.
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Polydactyl
image