16p11.2复制的双父母遗传导致发育迟缓的男女双胞胎。

IF 1.7 4区生物学 Q4 CELL BIOLOGY

Cytogenetic and Genome Research Pub Date : 2022-01-01 Epub Date: 2022-02-09 DOI:10.1159/000521297

Sidrah A Badar, Amy M Breman, Celanie K Christensen, Brett H Graham, Meredith R Golomb

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引用次数: 0

摘要

众所周知，16p11.2基因的重复是导致发育迟缓和自闭症的原因，但此前报道的16p11.2基因重复的病例只有2例。这两个先前报道的病例都表现出从亲本遗传的16p11.2重复的串联三倍。我们报告了异卵双胞胎表现出发育迟缓和16p11.2三倍，这是由于遗传了来自父母双方的16p11.2重复同源基因。本报告还回顾了先前发表的16p11.2重复病例的重叠特征，并讨论了可能的影响。

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Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.

The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication. Both of the previously reported cases exhibited tandem triplication on a 16p11.2 duplication inherited from 1 parent. We report fraternal twins presenting with developmental delay and 16p11.2 triplication resulting from inheritance of a 16p11.2 duplicated homolog from each parent. This report also reviews the overlapping features in previously published cases of 16p11.2 triplication, and possible implications are discussed.

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来源期刊

Cytogenetic and Genome Research 生物-细胞生物学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.