Delneste D, Vamos E, Pierquin G, Hayez-Delatte F, Van Regemorter N
Laboratoire de cytogénétique, Hôpital Erasme, Université libre de Bruxelles, Belgium.
Genet Couns. 1998;9(2):97-102.
The 3 affected children from 2 different wedlocks of the mother have been previously described (11). Search by FISH analysis in the mother revealed she is a carrier of balanced translocation of clear terminal G bands of equal sizes of the long arms of chromosomes 10 and 14. Chromosomal slides of the last child (Patient 3) could be analysed by fish and revealed that he did inherit the derivative chromosome 10. He had a partial trisomy 14 and a partial deletion of the long arm of chromosome 10. The clinical pictures correspondence to the possibly abnormal karyotypes will be discussed.
母亲两段不同婚姻中受影响的3名子女此前已有描述(11)。对母亲进行荧光原位杂交(FISH)分析发现，她是10号和14号染色体长臂等大小清晰末端G带平衡易位的携带者。对最小的孩子(患者3)的染色体玻片进行FISH分析，结果显示他确实遗传了衍生的10号染色体。他存在14号染色体部分三体和10号染色体长臂部分缺失。将讨论临床表现与可能异常核型的对应关系。
