19 号染色体三体镶嵌现象 1 例（作者译）
[A case of trisomy 19 mosaicism (author's transl)].
作者信息
Rethoré M O, Debray P, Guesne M C, Amédée-Manesme O, Iris L, Lejeune J
出版信息
Ann Genet. 1981;24(1):34-6.
PMID:6971615
Abstract
Trisomy-19 mosaicism was observed in lymphocytes of a newborn male with facial dysmorphism (upward slanting palpebral fissures, pointed nose, short upper lip, prominent antitragus), laryngeal stridor, and leucothrombopenia, and who died on day 13. Autopsy revealed no other major malformation but poor development of the cerebral sulci.
摘要
在一名患有面部畸形（睑裂向上倾斜、鼻尖、上唇短、对耳屏突出）、喉喘鸣和白细胞血小板减少症的新生儿男性淋巴细胞中观察到19三体镶嵌现象，该患儿于第13天死亡。尸检未发现其他主要畸形，但脑沟发育不良。
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