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Article

The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.

Journal of medical genetics - 27 Nov 2023

Woodbury-Smith Marc, D'Abate Lia, Stavropoulos Dimitri J, Howe Jennifer, Drmic Irene, Hoang Ny, Zarrei Mehdi, Trost Brett, Iaboni Alana, Anagnostou Evdokia, Scherer Stephen W

Abstract excerpt

BACKGROUND: We present genomic and phenotypic findings of a transgenerational family consisting of three male offspring, each with a maternally inherited distal 220 kb deletion at locus 16p11.2 (BP2-BP3). Genomic analysis of all family members was prompted by a diagnosis of autism spectrum disorder (ASD) in the eldest child, who also presented with a low body mass index. METHODS: All male offspring underwent...

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Identifiers

PMID: 37290907
DOI: 10.1136/jmg-2022-108818
PMCID: PMC10715508

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