Article
X-linked duplication copy number variation in a familial overgrowth condition.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2019
Ha Thoa K, Mardy Anne H, Beleford Daniah, Spanier Andrew, Wayman Brette V, Penon-Portmann Monica, Wiita Arun P, Shieh Joseph T
Abstract excerpt
We describe an overgrowth condition associated with X-linked copy number variation. Three brothers displayed an overgrowth pattern at birth that continued postnatally. Clinical findings included macrocephaly, distinctive facial features, developmental delay and variable clubfoot. Normal fetal growth was noted until the third trimester by Hadlock standards, revealing a late gestational overgrowth pattern....
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