[3号染色体短臂部分三体。病例报告及表型表达]
[Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression].
作者信息
Frankova Y E, Holenova H, Braulke I
机构信息
Abteilung für Medizinische Genetik, Fakultätskliniken, Karls-Universität, Prag.
出版信息
Monatsschr Kinderheilkd. 1991 Dec;139(12):841-3.
PMID:1770961
Abstract
A female infant with partial trisomy 3p, facial dysmorphism, cleft palate and severe psychomotor retardation is described. Cytogenetic evaluation revealed a paternal balanced translocation which could also be detected in three relatives of the father. The observed clinical features of the patient are discussed by comparison with 47 previously reported cases.
摘要
本文描述了一名患有3p部分三体综合征、面部畸形、腭裂和严重精神运动发育迟缓的女婴。细胞遗传学评估显示存在父源性平衡易位，在父亲的三位亲属中也检测到了该易位。通过与之前报道的47例病例进行比较，对该患者观察到的临床特征进行了讨论。
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Monatsschr Kinderheilkd. 1991 Dec;139(12):841-3.
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