18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.

AUTOR(ES)

Moedjono, S J

RESUMO

The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t(13;18) (13qter yields cen yields 18qter).

Documentos Relacionados

• Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation.
• 49,XXYY, +18 in a liveborn male.
• An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.
• A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male.
• A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.