A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

European journal of medical genetics (2013-01-23)

Céline Poirsier-Violle, Azzedine Abourra, Clarisse Baumann, Laurence Perrin, Yline Capri, Cyril Mignot, Sandrine Passemard, Séverine Drunat, Alain Verloes

PMID23337768

摘要

We report a boy with severe developmental delay, microcephaly and characteristic facial dysmorphism consisting in round face, hypertelorism, upslanted palpebral fissures, small nose, large mouth, micrognathia, sparse hair and eyelashes. Array-CGH revealed a de novo duplication of 103 kb within 17q21.2 not reported to date. The duplication includes 8 genes: DHX58, KAT2A, HSPB9, RAB5C, KCNH4, HCRT, GHDC and STAT5B. Three genes (KATA2, KCNH4, and STAT5B) may contribute to intellectual deficiency. Further observations will be necessary to confirm the specificity of the facial Gestalt.