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Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.

作者信息

Helmuth R A, Weaver D D, Wills E R

机构信息

Department of Pathology, Methodist Hospital of Indiana, Indianapolis.

出版信息

Am J Med Genet. 1989 Feb;32(2):178-81. doi: 10.1002/ajmg.1320320207.

DOI:10.1002/ajmg.1320320207
PMID:2494886
Abstract

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

摘要

相似文献

1
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引用本文的文献

1
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).对一名患有11号染色体部分缺失（雅各布森综合征）儿童的详细分子和临床研究。
Mol Cytogenet. 2009 Dec 9;2:26. doi: 10.1186/1755-8166-2-26.
2
Jacobsen syndrome.雅各布森综合征
Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9.
3
Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.与无脑畸形相关的14号染色体长臂近端间质性新发缺失的产前诊断。
J Med Genet. 1997 Sep;34(9):777-8. doi: 10.1136/jmg.34.9.777.
4
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.雅各布森综合征：1例伴有严重眼部异常、生长激素缺乏及甲状腺功能减退且与11号染色体（q23q25）缺失相关的患者报告及52例病例回顾
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Clinical and molecular characterization of patients with distal 11q deletions.11号染色体长臂远端缺失患者的临床与分子特征
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