PERICENTRIC-INVERSION OF CHROMOSOME-4 GIVING RISE TO DUP(4P) AND DUP(4Q) RECOMBINANTS WITHIN A SINGLE KINDRED
PERICENTRIC-INVERSION OF CHROMOSOME-4 GIVING RISE TO DUP(4P) AND DUP(4Q) RECOMBINANTS WITHIN A SINGLE KINDRED
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DOI：
10.1002/ajmg.1320450104
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发表时间：
1993-01-01
期刊：
影响因子：
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通讯作者：
BALDINGER, S
中科院分区：
文献类型：
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作者：
HIRSCH, B;BALDINGER, S
理论上，在减数分裂过程中，每一个臂间倒位都可以产生2条交替的重组染色体。其中一个将具有短臂材料的复制和长臂材料的缺失（dup p），另一个将具有长臂材料的复制和短臂材料的缺失（dup q）。然而，大多数已发表的情况下，已被限制到一个单一的重组类型发生在一个给定的亲属。在这里，我们记录了一个大的4号染色体臂间倒位，在2代内的亲属，都dup p和dup q重组体。该家族通过一名女婴的出生而得到证实，该女婴患有多处先天性异常，提示Wolf-Hirschhorn综合征，并被发现具有dup 4 q重组体。随后对她父亲和她27岁的智障阿姨的研究分别显示了inv（4）（p15.32q35）和dup 4p重组体的平衡。鉴于：（a）平衡倒位涉及4号染色体长度的约87%;（B）预测的减数分裂配对将是具有环形成的同源联会;（c）倒位断点远端的片段的大小相似且相对较小;和（d）两种重组体与生命相容，则该家族中重组体复发的风险高。遗传咨询解决了这些问题，到目前为止，慢性绒毛取样（CVS）和胎盘穿刺术已提供产前诊断。
Theoretically, every pericentric inversion can give rise, during meiosis, to 2 alternate recombinant chromosomes. One of these will have a duplication of short arm material and deletion of long arm material (dup p), and the other, a duplication of a long arm material and deletion of short arm material (dup q). However, most published cases have been limited to a single recombinant type occurring within a given kindred. Here we document a large pericentric inversion of chromosome 4 which gave rise, within 2 generations of a kindred, to both dup p and dup q recombinants. The family was ascertained by the birth of a baby girl with multiple congenital anomalies suggestive of Wolf-Hirschhorn syndrome, and was found to have a dup 4q recombinant. Subsequent studies of her father and of her 27-year-old mentally retarded aunt showed a balanced inv(4) (p15.32q35) and a dup 4p recombinant, respectively. Given that: (a) the balanced inversion involves approximately 87% of the length of chromosome 4; (b) the predicted meiotic pairing would be homosynapsis with loop formation; (c) the size of the segments distal to the breakpoints of the inversion are of similar and relatively small size; and (d) both recombinants are compatible with life, then the risk for recurrence of a recombinant in this family is high. Genetic counseling addressed these issues, and to date, both chronic villus sampling (CVS) and amniocentesis have been provided for prenatal diagnosis.