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Синдром кільцевої хромосоми 8

ORPHA:1450· ICD-10 Q93.2· Ring chromosome 8 syndrome

Визначення(English summary)

A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.

Поширеність
<1 / 1 000 000
Вік початку
Antenatal, Neonatal