A new case of proximal 10q partial trisomy.

AUTOR(ES)

de Michelena, M I

RESUMO

We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for the delineation of this entity as a specific, clinically recognisable syndrome.

Documentos Relacionados

• Further delineation of the partial proximal trisomy 10q syndrome.
• Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.
• Familial partial 14 trisomy.
• Familial partial 14 trisomy.
• Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.