Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).

AUTOR(ES)

Goldstein, D J

RESUMO

Two affected first cousins with duplication of 15(q22.3----qter) are reported. This resulted from a familial t(8;15)(p23.3;q22.3) translocation. The findings in these patients are compared with each other and with six other published cases. Anthropometric and dermatoglyphic findings are summarised.

Documentos Relacionados

• Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
• Monosomy 13q32.3----qter: report of two cases.
• Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
• Large inv dup(15) chromosome in two generations.
• 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).