Family case of Potocki-Lupski syndrome.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2024-03-22 DOI:10.1186/s13039-024-00673-5

L N Kolbasin, T A Dubrovskaya, G B Salnikova, E N Solovieva, M Yu Donnikov, R A Illarionov, A S Glotov, L V Kovalenko, L D Belotserkovtseva

{"title":"Family case of Potocki-Lupski syndrome.","authors":"L N Kolbasin, T A Dubrovskaya, G B Salnikova, E N Solovieva, M Yu Donnikov, R A Illarionov, A S Glotov, L V Kovalenko, L D Belotserkovtseva","doi":"10.1186/s13039-024-00673-5","DOIUrl":null,"url":null,"abstract":"Background: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging.Case presentation: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, \"elfin\" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region.Conclusions: Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10960457/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Cytogenetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1186/s13039-024-00673-5","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging.

Case presentation: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region.

Conclusions: Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.

查看原文本刊更多论文

波托基-卢普斯基综合征家庭病例。

背景：波托基-卢普斯基综合征（PTLS，OMIM # 610883）是一种罕见的遗传性发育障碍，由染色体 17p11.2 部分杂合性微重复引起。这种疾病的特点是临床表现差异很大，这给临床和分子诊断带来了挑战：我们在此报告一个被诊断为 PTLS 的家庭（母亲和她的两个孩子）。在对患儿进行检查时，发现了神经和心理（神经精神）表现（语言发育迟缓、轻度智力低下）、运动障碍、颅面畸形（小头畸形、多脑畸形、三角脸、前额宽凸、长下巴、反畸形斜面、"精灵 "耳朵）。MLPA和CMA分子遗传学检测证实了这一疑似临床诊断，检测结果显示存在节段性无脑畸形；17p11.2区域存在微重复：患有 PTLS 的儿童可能具有临床上可识别的特殊表型：颅面畸形、运动和神经系统表现，这可能与主治医生可能患有的遗传疾病有关。此外，每个患有这种综合征的儿童都是独一无二的，可能会有不同的临床表现。对这类患者的治疗需要多学科团队合作，包括医学遗传咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

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.