Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

AUTOR(ES)

Concolino, D

RESUMO

We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.

Documentos Relacionados

• Partial trisomy 3q causing mild Cornelia de Lange phenotype.
• Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
• Partial trisomy 1q25----qter.
• A case of deletion 2q35----qter and a peculiar phenotype.
• A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.