hrp0097p1-262 | Fat, Metabolism and Obesity | ESPE2023

16p11.2 microdeletion: a common copy number variation (CNV) identified in a Portuguese pediatric cohort with syndromic obesity.

Rosmaninho-Salgado Joana , B. Sousa Sergio , M. Pires Luis , Ferreira Susana , B. Melo Joana , M. Carreira Isabel , M. Saraiva Jorge

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...