Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

7q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as can...

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Autores principales:	Liang-Liang Fan, Yue Sheng, Chen-Yu Wang, Ya-Li Li, Ji-Shi Liu
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	7q terminal deletion syndrome 7q35-7q363 deletion SNP array cerebellar sulcus widening congenital brain dysplasia developmental delay Genetics QH426-470
Acceso en línea:	https://doaj.org/article/7737368f2aa148bf9959d1557658fa17
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spelling	oai:doaj.org-article:7737368f2aa148bf9959d1557658fa172021-12-01T23:08:38ZCase Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion1664-802110.3389/fgene.2021.761003https://doaj.org/article/7737368f2aa148bf9959d1557658fa172021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.761003/fullhttps://doaj.org/toc/1664-80217q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as candidate genes for these phenotypes, of which SHH, EN2, KCNH2, RHEB, HLXB9, EZH2, MNX1 and LIMR1 may be the most important. In this study, we discuss the case of a 2.5-year-old male patient with multiple malformations, congenital brain dysplasia, developmental delay, and intellectual disability. A high-resolution genome-wide single nucleotide polymorphism array and real-time polymerase chain reaction were performed to detect genetic lesions. A de novo 9.4 Mb deletion in chromosome region 7q35-7q36.3 (chr7:147,493,985–156,774,460) was found. This chromosome region contains 68 genes, some of which are candidate genes for each phenotype. To the best of our knowledge, this is a rare case report of 7q terminal deletion syndrome in a Chinese patient. Our study identifies a rare phenotype in terms of brain structure abnormalities and cerebellar sulcus widening in patients with deletion in 7q35-7q36.3.Liang-Liang FanLiang-Liang FanLiang-Liang FanYue ShengChen-Yu WangYa-Li LiJi-Shi LiuJi-Shi LiuFrontiers Media S.A.article7q terminal deletion syndrome7q35-7q363 deletionSNP arraycerebellar sulcus wideningcongenital brain dysplasiadevelopmental delayGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	7q terminal deletion syndrome 7q35-7q363 deletion SNP array cerebellar sulcus widening congenital brain dysplasia developmental delay Genetics QH426-470
spellingShingle	7q terminal deletion syndrome 7q35-7q363 deletion SNP array cerebellar sulcus widening congenital brain dysplasia developmental delay Genetics QH426-470 Liang-Liang Fan Liang-Liang Fan Liang-Liang Fan Yue Sheng Chen-Yu Wang Ya-Li Li Ji-Shi Liu Ji-Shi Liu Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
description	7q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as candidate genes for these phenotypes, of which SHH, EN2, KCNH2, RHEB, HLXB9, EZH2, MNX1 and LIMR1 may be the most important. In this study, we discuss the case of a 2.5-year-old male patient with multiple malformations, congenital brain dysplasia, developmental delay, and intellectual disability. A high-resolution genome-wide single nucleotide polymorphism array and real-time polymerase chain reaction were performed to detect genetic lesions. A de novo 9.4 Mb deletion in chromosome region 7q35-7q36.3 (chr7:147,493,985–156,774,460) was found. This chromosome region contains 68 genes, some of which are candidate genes for each phenotype. To the best of our knowledge, this is a rare case report of 7q terminal deletion syndrome in a Chinese patient. Our study identifies a rare phenotype in terms of brain structure abnormalities and cerebellar sulcus widening in patients with deletion in 7q35-7q36.3.
format	article
author	Liang-Liang Fan Liang-Liang Fan Liang-Liang Fan Yue Sheng Chen-Yu Wang Ya-Li Li Ji-Shi Liu Ji-Shi Liu
author_facet	Liang-Liang Fan Liang-Liang Fan Liang-Liang Fan Yue Sheng Chen-Yu Wang Ya-Li Li Ji-Shi Liu Ji-Shi Liu
author_sort	Liang-Liang Fan
title	Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
title_short	Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
title_full	Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
title_fullStr	Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
title_full_unstemmed	Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
title_sort	case report: congenital brain dysplasia, developmental delay and intellectual disability in a patient with a 7q35-7q36.3 deletion
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/7737368f2aa148bf9959d1557658fa17
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Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

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