Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2022-12-17 DOI:10.1186/s13039-022-00629-7

Yousif Khalifa, Hisham Y Hassan, Anja Weise, Thomas Liehr, Haya Alkhayyat

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引用次数: 1

Abstract

Background: Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and behavior problems. Literature of this syndrome is scanty and confusing, and represents a challenge for pediatricians, in terms of finding the correct diagnoses.

Case presentation: In a postnatal case with hypotonia and dysmorphic features a de novo ring chromosome r(22) leading to in parallel microdeletion and micro duplication in 22q13 was diagnosed by banding cytogenetics, and further characterized in detail by molecular cytogenetic and chromosomal microarray.

Conclusion: Here a rare PHMDS case caused by a r(22) is presented. Less than 10 comparable cases are reported in the literature. The present case highlights the importance of conducting genetic counseling and appropriate genetic tests for newborns with mild dysmorphic features.

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费伦麦克德米德和22q13重复综合征的分子细胞遗传学和表型特征:1例报告。

背景:Phelan-McDermid综合征(PHMDS)是一种罕见的遗传性疾病，主要由SHANK3基因单倍不足引起，以新生儿张力低下、发育迟缓、轻微畸形特征、癫痫发作和行为问题为特征。关于这种综合征的文献很少，令人困惑，对儿科医生来说，找到正确的诊断是一个挑战。病例介绍:在一个产后低肌紧度和畸形特征的病例中，通过带带细胞遗传学诊断出一个新生的环状染色体r(22)导致22q13平行微缺失和微重复，并通过分子细胞遗传学和染色体微阵列进一步详细表征。结论:本文报告一例罕见的由r(22)引起的PHMDS病例。文献中报道的可比病例不到10例。本病例强调了对轻度畸形新生儿进行遗传咨询和适当基因检测的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.