A boy with supernumerary mosaic trisomy 19q, involving 19q13.11-19q13.2, with macrocephaly, obesity and mild facial dysmorphism.

摘要

A small number of cases of pure trisomy involving proximal 19ql3 have been described. Qorri et al. (2002) described a case of de-novo duplication 19ql3.1-19ql3.3 in a child with psychomotor retardation. Bralo etal. (2008) presented another case of pure duplication 19ql2-19ql3.2 in a child with microcephaly, developmental delay and mild dysmorphic features (mild epicanthic folds, hypertelorism, strabismus, broad nasal bridge, long philtrum, down turned corners of mouth, large ears and sparse hair).