Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay. Issue 7 (22nd July 2022)

• Record Type: Journal Article
• Authors: Wallerstein, Violet; Grant, Leon; Wallerstein, Robert
• Is Part Of: Clinical case reports. Volume 10:Issue 7(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-07-22
• Subjects: chromosome 1 -- developmental delay -- genetic testing -- isodisomy -- uniparental disomy; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.5956
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1. Abstract : Uniparental disomy of chromosome 1 is not associated with a specific phenotype. It has been associated with diverse recessive disorders where the causative gene is located on chromosome 1. In rare cases, it may be associated with developmental delay.