由于父亲的t(4;18)(p11;q21.3)易位导致的4p三体和18q部分单体。
Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).
作者信息
Thanemozhi G, Santhiya S T, Chandra N, Palka G, Jayam S, Gopinath P M
机构信息
Department of Genetics, Dr. A.L.M. Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai, India.
出版信息
Indian J Pediatr. 2000 Aug;67(8):601-4. doi: 10.1007/BF02758495.
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.
父母一方若为平衡易位的携带者状态，会增加子代先天性畸形的风险。一名女性新生儿出现多种先天性异常，经检查发现是由于父亲发生相互易位t(4; 18) (p11; q21.3)，导致4号染色体短臂三体及18号染色体长臂部分单体。现将该病例的临床及细胞遗传学 findings 与4号染色体短臂三体、18号染色体长臂单体的特征以及先前报道的两例相似病例进行比较。 （注：原文中“findings”未翻译，可能是有遗漏信息，若按常规应翻译为“发现”之类的词）
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