Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.

摘要: We describe a 6-month-old female with developmental delay, hypotonia, supernumerary nipples, and distinct craniofacial features. Postnatal chromosome analysis revealed an unbalanced karyotype involving der (5) array-CGH defined two regions partial 2.3 Mb deletion of 5q35.3 in combination large 19.5 Mb duplication 10 from q25.3 to q26.3. Parental karyotyping showed that the father was carrier balanced t(5;10)(q35;q25). Two cousins proband similar facial features had same presence inherited malsegregation familial translocation. Additionally, three siblings (two deceased one abortion) manifested more severe phenotype including congenital heart defect, cleft palate, agenesis corpus callosum were diagnosed karyotypes © 2014 Wiley Periodicals, Inc.