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Maternale uniparentale disomie van chromosoom 20
Paternale uniparentale disomie van chromosoom 20

Traduction de «Maternale uniparentale disomie van chromosoom 20 » (Néerlandais → Anglais) :

maternale uniparentale disomie van chromosoom 20

A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay


paternale uniparentale disomie van chromosoom 20

A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained




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Date index: 2024-03-23
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