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46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.

作者信息

Maaswinkel-Mooij P D, de Jong P, Beverstock G C

机构信息

Department of Pediatrics and Clinical Genetics, University Hospital Leiden, The Netherlands.

出版信息

Clin Genet. 1993 Feb;43(2):76-8. doi: 10.1111/j.1399-0004.1993.tb04431.x.

DOI:10.1111/j.1399-0004.1993.tb04431.x
PMID:8448905
Abstract

A mosaic karyotype: 46,XY,del(18)(q21.3q22.2)/47,XY,del(18) (q21.3q22.2)+ marker, was found in a mentally retarded male with a mild form of the 18q- syndrome and aplasia of the right thumb. By fluorescent in situ hybridisation, the marker chromosome could be identified as a ring chromosome no. 18.

摘要

相似文献

1
46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.
Clin Genet. 1993 Feb;43(2):76-8. doi: 10.1111/j.1399-0004.1993.tb04431.x.
2
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7
Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.母亲的46,XX/46,XX,r(18)嵌合体中18号环状染色体的传递及她儿子的18号环状染色体综合征
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引用本文的文献

1
Adults with Chromosome 18 Abnormalities.患有18号染色体异常的成年人。
J Genet Couns. 2015 Aug;24(4):663-74. doi: 10.1007/s10897-014-9793-5. Epub 2014 Nov 19.
2
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report.通过荧光原位杂交（FISH）和比较基因组杂交芯片（array-CGH）研究的1例小头畸形、面部畸形特征及18号染色体末端缺失del(18)(q21.32-qter)嵌合体患儿的复杂染色体重排：病例报告
Mol Cytogenet. 2008 Nov 11;1:24. doi: 10.1186/1755-8166-1-24.