Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-07-28 eCollection Date: 2023-12-01 DOI:10.1055/s-0041-1732477

Chakshu Chaudhry, Divya Kumari, Inusha Panigrahi, Parminder Kaur

引用次数: 0

Abstract

Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, congenital heart disease, and renal abnormalities. The size of deletion can be variable. We report four cases of 1p36 deletion syndrome detected in the past 3 years in a genetic clinic. One patient was detected by next-generation sequencing, another by chromosomal microarray, and the remaining two by multiplex ligation-dependent probe amplification. We discuss the variable presentations in the four children. Early diagnosis enables better prognostication and further reproductive planning.

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染色体 1p36 缺失综合征：四名表现各异的患者

染色体 1p36 缺失约占智力残疾病例的 1%。临床特征包括发育迟缓、肌张力低下、癫痫发作、身材矮小、智力障碍、视力和听力障碍、先天性心脏病和肾功能异常。缺失的大小可以是多变的。我们报告了过去 3 年中在一家遗传诊所发现的 4 例 1p36 缺失综合征病例。其中一名患者是通过新一代测序发现的，另一名患者是通过染色体微阵列发现的，其余两名患者是通过多重连接依赖性探针扩增发现的。我们讨论了四名患儿的不同表现。早期诊断有助于更好地预后和进一步的生殖规划。

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

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.