Mosaic trisomy 15 in a liveborn infant

American Journal of Medical Genetics. Part a
Jacob McPaddenSamantha A Schrier Vergano

Abstract

With only a small number of cases in the medical literature, mosaic trisomy 15 in liveborn infants is very rare. Despite its rarity, similar features among individuals have been described, including intrauterine growth retardation, craniofacial abnormalities and facial dysmorphisms, cardiac disease, and other organ anomalies. Very few liveborns have survived the first year of life. We report here on a term infant with growth restriction and multiple congenital anomalies who was found to have mosaic trisomy 15. The proband presented with some frequently reported findings such as dysmorphic facies and overlapping fingers, and the uncommon finding of whorled hypopigmentation. Previously unreported findings include abnormal cerebral vasculature and dysplastic kidneys. We add this new phenotypic information to widen the spectrum previously reported and provide a review of the literature to date.

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Citations

Sep 19, 2015·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Feb 9, 2018·Prenatal Diagnosis·Tom PhilippStefan Jirecek
Apr 18, 2018·Current Opinion in Obstetrics & Gynecology·Francesca PennettaAndrea Borini
Mar 7, 2020·Fetal and Pediatric Pathology·Jennifer PorsJefferson Terry
May 22, 2019·Genes·Ivan Y IourovSergei I Kutsev
Nov 11, 2020·The Journal of International Medical Research·Lingshan GouMaosheng Gu

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