Monosomy and trisomy of 15q24→qter in a family with a translocation t(6;15)(P25;q24)
Monosomy and trisomy of 15q24→qter in a family with a translocation t(6;15)(P25;q24)
复制标题
易位 t(6;15)(P25;q24) 家系中 15q24→qter 的单体性和三体性
作者：
U. Kristoffersson;S. Heim;N. Mandahl;Lennart Sundkvist;Jan Szelest;I. Hägerstrand
描述了一名患有多种异常的儿童，包括生长迟缓、左侧腹股沟疝伴肺发育不全和脑畸形。细胞遗传学研究表明，缺失的一个染色体15，del（15）（q24 qter）的远端部分，以前没有描述的畸变。家系研究显示，母亲有一个平衡易位，t（6;15）（p25;q24）。她随后的两次怀孕在产前诊断后导致流产：一个胎儿为15 q24 →qter三体，而另一个胎儿为15 q24 →qter单体和左侧腹股沟疝，与第一个孩子相似。
A child with multiple anomalies, including growth retardation, a left‐sided diaphragmatic hernia with lung hypoplasia, and cerebral malformations is described. Cytogenetic investigation demonstrated a deletion of the distal part of one chromosome 15, del(15)(q24qter), an aberration not previously described. Family studies revealed that the mother had a balanced translocation, t(6;15)(p25;q24). Two of her subsequent pregnancies resulted in abortions after prenatal diagnosis: one fetus was trisomic for 15q24→qter, while the other had monosomy 15q24→qter and a left‐sided diaphragmatic hernia similar to the first child.