Duplication 14(q31----qter).

AUTOR(ES)

Carr, D M

RESUMO

A 29 year old black female with delayed development and multiple congenital anomalies showing a duplication of 14(q31----qter) is presented. Although clinical features associated with partial duplication of the distal long arm of chromosome 14 are variable, there are some features which are distinctive of this chromosomal abnormality. The clinical findings of 14 cases with duplication distal 14q are compared in an effort to define a recognisable syndrome.

Documentos Relacionados

• Partial trisomy 12q24.31----qter.
• Partial trisomy 14q24 leads to qter.
• De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).
• Familial pericentric inversion of chromosome 13 resulting in duplication 13q22→qter
• Paget Disease of Bone: Mapping of Two Loci at 5q35-qter and 5q31