SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation

We report three brothers presenting with the SATB2-associated syndrome. They all carry the same 121-kb heterozygous intragenic deletion of SATB2. Parental somatic mosaicism was detected by array-comparative genomic hybridization on a maternal blood sample and confirmed by Fluorescence in situ hybridization analysis on blood and buccal cells. This clinical report highlights the importance of investigating for parental somatic mosaicism to estimate the proper recurrence risk for subsequent pregnancy.

Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research