因家族性不平衡易位rcp(7;18)(q34;q21)导致的独眼畸形。
Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21).
作者信息
Smart R D, Ross J, Amann G, Nelson M M
出版信息
Am J Med Genet. 1986 Jun;24(2):269-72. doi: 10.1002/ajmg.1320240207.
PMID:3087168
Abstract
One fetus is described with cyclopia and associated abnormalities as a result of an unbalanced translocation involving chromosomes 7 and 18 [46XX,del 7, rcp(7;18)(q34;21)]. The parents had had a previous infant described as having possible holoprosencephaly, but no medical records were available to substantiate this description.
摘要
一名胎儿因涉及7号和18号染色体的不平衡易位[46XX，del 7，rcp(7;18)(q34;21)]而出现独眼畸形及相关异常。这对父母曾有一个婴儿被描述可能患有前脑无裂畸形，但没有医疗记录来证实这一描述。
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