Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3)

被引：0
|
作者：
Thanemozhi G. [1 ]
Santhiya S.T. [1 ]
Chandra N. [1 ]
Palka G. [2 ]
Jayam S. [3 ]
Gopinath P.M. [1 ,4 ]
机构：
[1] Department of Genetics, Dr. A.L.M. Post Grad. Inst. Basic M., University of Madras, Taramani, Chennai
[2] Department of Biomedical Sciences, University of Chieti, Cheiti
[3] Vijaya Hospital, Chennai
[4] Department of Genetics, Dr. A.L.M. Post Grad. Inst. Basic M., University of Madras, Taramani
来源：
The Indian Journal of Pediatrics | 2000年 / 67卷 / 8期
关键词：
Partial monosomy 18q; Trisomy; 4p;
D O I：
10.1007/BF02758495
中图分类号：
学科分类号：
摘要：
A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.
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页码：601 / 604
页数：3
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