Partial trisomy 14q24 leads to qter.

AUTOR(ES)

Romain, D R

RESUMO

A newborn male with partial trisomy for the distal part of the long arm of chromosome 14 (14q24 leads to qter) is described. The anomaly arose as an adjacent 1 meiotic segregation product from a balanced translocation t(11;14) (q25;q24) in the mother (figure). To our knowledge only one previous case involving the same segment has been reported. The karyotype was confirmed as 46,XY,der(11),t(11;14)(q25;q24) mat.

Documentos Relacionados

• Partial trisomy 8 (trisomy 8q2106 leads to 8qter).
• Partial trisomy 12q24.31----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).
• Partial trisomy 1q25----qter.
• Familial distal trisomy 8(q24.13----qter).