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Duplication 3p21----3pter and cyclopia.

作者信息

Kurtzman D N, Van Dyke D L, Rich C A, Weiss L

出版信息

Am J Med Genet. 1987 May;27(1):33-7. doi: 10.1002/ajmg.1320270105.

DOI:10.1002/ajmg.1320270105
PMID:3605204
Abstract

We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).

摘要

相似文献

1
Duplication 3p21----3pter and cyclopia.
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2
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引用本文的文献

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Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.3号染色体短臂倒位重复伴末端缺失：第二例产后病例报告及其他临床特征
Case Rep Genet. 2019 Jul 25;2019:5384295. doi: 10.1155/2019/5384295. eCollection 2019.
2
Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report.自闭症谱系障碍、克兰费尔特综合征与3号染色体p21.31重复：一例报告
MedGenMed. 2007 Dec 18;9(4):60.
3
A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.
一名9岁男性，3号染色体p25.3-p26.2区域重复：临床报告及基因表达分析
Am J Med Genet A. 2006 Mar 15;140(6):573-9. doi: 10.1002/ajmg.a.31132.
4
Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q.前脑无裂畸形合并7号染色体长臂结构重排患者的分子细胞遗传学分析
Am J Med Genet. 1998 Feb 26;76(1):51-7.
5
Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.一名患有7号染色体长臂末端缺失（7q36→7qter）的胎儿出现前脑无裂畸形和骶骨发育不全。
J Med Genet. 1993 Jun;30(6):521-4. doi: 10.1136/jmg.30.6.521.