A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism

作者：del Refugio Rivera Vega Maria; Gomez del Angel Luis A; Valdes Miranda Juan M; Perez Cabrera Adrian; Gonzalez Huerta Luz M; Toral Lopez Jaime; Cuevas Covarrubias Sergio^*

来源：Cytogenetic and Genome Research, 2015, 145(1): 1-5.

DOI：10.1159/000381234

• 7q deletion
• FOXP2
• CytoScan HD array
• Intellectual disability

Interstitial deletions of 7q show a wide phenotypic spectrum that varies with respect to the location and size of the deleted region. They lead to craniofacial dysmorphism with intellectual disability, growth retardation, and various congenital defects. Here, a Mexican girl with microcephaly, facial dysmorphism, short stature, hand anomalies, and intellectual disability was analyzed by CytoScan HD array. Her phenotype was associated with a de novo 7q22.3q32.1 deletion involving 109 loci, 57 of them listed in the OMIM database. This novel deletion increases the knowledge of the variability in the rupture sites of the region and expands the spectrum of molecular and clinical defects of the 7q deletion syndrome.

• 出版日期2015