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

Clinical Case Reports

McKinsey L. Goodenberger¹  Nicole Hoppman¹  Cinthya Zepeda‐Mendoza¹  Ashley Kuhl²  Gregory M. Rice² 

[1] 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;

关键词: CHD1;    chromosome microarray;    copy number variant;    deletion;    developmental delay;    haploinsufficiency;   

DOI  :  10.1002/ccr3.2186

来源: DOAJ

【 摘 要 】

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 CHD1 to be contributing to the clinical features observed in this family.

【 授权许可】

Unknown