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Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding.

作者信息

Lee Ni-Chung, Chang Shun-Ping, Chang Cheng-Shyong, Chen Chia-Hsiang, Lee Dong-Jay, Lin Chyi-Chyang, Hwu Wuh-Liang, Chen Ming

机构信息

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

出版信息

Prenat Diagn. 2009 Nov;29(11):1058-60. doi: 10.1002/pd.2332.

DOI:10.1002/pd.2332
PMID:19629965
Abstract
摘要

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Prenat Diagn. 2009 Nov;29(11):1058-60. doi: 10.1002/pd.2332.
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Unusual 8p inverted duplication deletion with telomere capture from 8q.伴有来自8q端粒捕获的异常8号染色体短臂倒位重复缺失。
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Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.18号染色体家族性臂间倒位：dup(18p)/del(18q)或dup(18q)/del(18p)重组染色体杂合子患者的行为异常
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Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype.具有正常或平衡G带核型的生长受限异常胎儿中的亚端粒重排和22q11.2缺失综合征。
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A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.一例伴有综合征特征的新生儿 2q34q36 重复和 2q37 缺失的罕见病例。
Genes (Basel). 2023 Dec 10;14(12):2194. doi: 10.3390/genes14122194.
2
De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.一名具有混合表型女童中通过单核苷酸多态性阵列（SNP arrays）和荧光原位杂交（FISH）鉴定的18号染色体长臂的新发重复/缺失
J Genet. 2014 Dec;93(3):869-73. doi: 10.1007/s12041-014-0459-8.