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3号染色体短臂部分缺失:3p25 - 3p末端综合征的进一步界定

Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-3pter syndrome.

作者信息

Reifen R M, Gale R, Kerem E, Armon Y, Brand A, Dagan J, Kohn G

出版信息

Clin Genet. 1986 Aug;30(2):127-30. doi: 10.1111/j.1399-0004.1986.tb00581.x.

DOI:10.1111/j.1399-0004.1986.tb00581.x
PMID:3757303
Abstract

A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.

摘要

本文描述了一名患有3号染色体短臂部分缺失的男性新生儿。该患者与先前报道的病例具有大多数共同特征。此外,还描述了一些先前未报道过的心脏、骨骼和胃肠道异常情况。这些特征可能有助于进一步明确该综合征。

相似文献

1
Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-3pter syndrome.3号染色体短臂部分缺失:3p25 - 3p末端综合征的进一步界定
Clin Genet. 1986 Aug;30(2):127-30. doi: 10.1111/j.1399-0004.1986.tb00581.x.
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Partial deletion of the short arm of chromosome 3 (3p25----3pter). Further delineation of the clinical phenotype.
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Deletion of the short arm of chromosome 3: a case report with necropsy findings.3号染色体短臂缺失:一例尸检结果的病例报告
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Terminal deletion of the short arm of chromosome 3.3号染色体短臂的末端缺失。
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46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.46,XY,del(3)(pter→p25)综合征:临床表型的进一步描述。
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引用本文的文献

1
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.4例3p综合征患者3p25断点的精确定位
J Med Genet. 1996 Oct;33(10):842-7. doi: 10.1136/jmg.33.10.842.
2
Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH).通过荧光原位杂交(FISH)对3号染色体p25 - p26区域进行物理图谱绘制。
Hum Genet. 1993 Aug;92(1):18-22. doi: 10.1007/BF00216139.
3
Double mitral valve, complete atrioventricular canal, and tricuspid atresia in chromosomal 3P-syndrome.
Pediatr Cardiol. 1987;8(1):55-6. doi: 10.1007/BF02308387.