[4p单体的疑难细胞遗传学诊断]
[A difficult cytogenetic diagnosis of 4p monosomy].
作者信息
Vittu G, Croquette M F, Boidein F, Cousin J
机构信息
Clinique médicale infantile et des maladies infectieuses de la Faculté Libre, Hôpital Saint-Antoine, Lille.
出版信息
J Genet Hum. 1988 Jan;36(1-2):75-82.
PMID:3379382
Abstract
Monosomy 4p is rare; cytogenetic diagnosis is difficult when it is not oriented by clinical signs such as severe hypotonia, profound encephalopathy and dysmorphism ("casque de guerrier grec"). Parenteral karyotype is indispensable in case of translocation.
摘要
4p单体罕见；若未以严重肌张力减退、深度脑病及畸形（“希腊战士头盔”）等临床体征为导向，细胞遗传学诊断则困难。发生易位时，外周血核型分析必不可少。
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