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与面部畸形和语言发育迟缓相关的5q15-q21.2缺失的家族性分离。

Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.

作者信息

Zepeda-Mendoza Cinthya, Goodenberger McKinsey L, Kuhl Ashley, Rice Gregory M, Hoppman Nicole

机构信息

Division of Laboratory Genetics and Genomics, Departments of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota.

School of Medicine and Public Health University of Wisconsin Madison Wisconsin.

出版信息

Clin Case Rep. 2019 May 4;7(6):1154-1160. doi: 10.1002/ccr3.2186. eCollection 2019 Jun.

DOI:10.1002/ccr3.2186
PMID:31183085
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6552940/
Abstract

We report a two-generation family with four females harboring an 8.5Mb heterozygous deletion of 5q15-q21.2 who present with dysmorphic craniofacial features and speech delay. We hypothesize haploinsufficiency of to be contributing to the clinical features observed in this family.

摘要

我们报告了一个两代家族，其中四名女性携带5q15 - q21.2区域8.5Mb的杂合性缺失，她们表现出颅面部畸形特征和语言发育迟缓。我们推测该区域的单倍剂量不足是导致这个家族中观察到的临床特征的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fbd/6552940/7a2abaad3828/CCR3-7-1154-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fbd/6552940/e8d47e635e47/CCR3-7-1154-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fbd/6552940/e7fc34b64b39/CCR3-7-1154-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fbd/6552940/7a2abaad3828/CCR3-7-1154-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fbd/6552940/e8d47e635e47/CCR3-7-1154-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fbd/6552940/e7fc34b64b39/CCR3-7-1154-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fbd/6552940/7a2abaad3828/CCR3-7-1154-g003.jpg

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