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.

Jacob McPadden

Benjamin M. Helm

Brooke B. Spangler

Leslie P. Ross

Debra B. Boles

Samantha A. Schrier Vergano

American Journal of Medical Genetics Part A

美国医学遗传学杂志 - A 部分 (AJMG) 为您提供遗传疾病和出生缺陷的所有生物学和医学方面的持续报道，以及在当前基因型/表型相关性的背景下深入记录表型分析。除了 A 部分，AJMG 还出版了另外两个部分： B 部分：神经精神遗传学，涵盖了对神经和精神疾病遗传机制的实验和临床研究。 C 部分：医学遗传学研讨会，客座编辑的主题评论合集AJMG 读者的热门话题。

The American Journal of Medical Genetics, Part A focuses on the biological and medical aspects of genetic disorders and birth defects, providing ongoing research and in-depth analysis of phenotype in the context of current genotype/phenotype correlations. In addition to Part A, AJMG publishes two other parts: Part B, which covers experimental and clinical studies on the genetic mechanisms of neuropsychiatric disorders; and Part C, which is a collection of themed reviews edited by guest editors on topics of interest to AJMG readers.

《American Journal of Medical Genetics, Part A》（美国医学遗传学杂志 - A 部分）专注于遗传疾病和出生缺陷的生物学与医学各个方面的持续研究，深入探讨基因型与表型之间的关系。除了 A 部分外，AJMG 还出版了两个其他部分：B 部分专注于神经精神遗传学，涵盖神经和精神疾病的遗传机制的实验与临床研究；C 部分则是医学遗传学研讨会，汇集了客座编辑对AJMG读者感兴趣的热门话题的评论合集。

American Journal of Medical Genetics, Part A

Mosaic trisomy 15 in a liveborn infant

A term infant with growth restriction and multiple congenital anomalies who was found to have mosaic trisomy 15 is reported here on, with some frequently reported findings such as dysmorphic facies and overlapping fingers, and the uncommon finding of whorled hypopigmentation.

Category	Quartile
生物学	4
生物学, 遗传学	4

Mosaic trisomy 15 in a liveborn infant

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Category	Quartile
GENETICS & HEREDITY	3