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