患有猫叫综合征且明显缺失Y染色体的男婴。
Male infant with cat cry syndrome and apparent absence of the Y chromosome.
作者信息
Tolksdorf M, Kunze J, Rossius H, Chiyo H
出版信息
Eur J Pediatr. 1980 May;133(3):293-6. doi: 10.1007/BF00496093.
PMID:7389744
Abstract
We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome. The karyotype is interpreted as 45,X,del(5)(qter leads to p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.
摘要
我们报告了一名患有猫叫综合征且明显缺失Y染色体的男孩。核型被解释为45,X,del(5)(qter→p13:)。尽管在淋巴细胞或成纤维细胞中未发现Y染色体，但该男孩具有正常的男性外生殖器和双侧睾丸。
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