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[聋哑症、下肢淋巴水肿及血液学异常(急性白血病、血细胞减少症),呈常染色体显性遗传]

[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].

作者信息

Emberger J M, Navarro M, Dejean M, Izarn P

出版信息

J Genet Hum. 1979 Oct;27(3):237-45.

PMID:295075
Abstract

Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.

摘要

关于一种综合征的报告,该综合征由感音神经性聋哑、早发性下肢淋巴水肿和血液学异常(急性髓细胞性白血病、血细胞减少症)组成,涉及4名个体(来自两代人的3名男孩和2名女孩)。该观察结果提示为常染色体显性遗传,不过隐性遗传也不能完全排除。

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