Mosaic trisomy 15 in a liveborn infant

• Published in: American journal of medical genetics. Part A Vol. 167A; no. 4; pp. 821 - 825
• Main Authors: McPadden, Jacob, Helm, Benjamin M., Spangler, Brooke B., Ross, Leslie P., Boles, Debra B., Schrier Vergano, Samantha A.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.04.2015; Wiley Subscription Services, Inc
• Subjects: aneuploidy; Chromosomes, Human, Pair 15 - genetics; Fatal Outcome; Female; Fetal Growth Retardation - diagnostic imaging; Fetal Growth Retardation - genetics; Humans; liveborn; Mosaicism; Trisomy - diagnosis; trisomy 15; Ultrasonography, Prenatal; aneuploidy; liveborn; trisomy 15; mosaicism
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36958

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. © 2015 Wiley Periodicals, Inc.