Mosaic trisomy 15 in a liveborn infant

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.

Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center

“…The features of mosaic trisomy 15 have been described previously, and mainly include intrauterine growth retardation, cardiac diseases, craniofacial dysmorphisms, and other organ anomalies. 18,19 In this case, no fetal structural anomaly was detected by ultrasound scans until 24 weeks' gestation. Clinical follow-up showed that this pregnancy was ended by the patient's choice.…”

Morphology of early intrauterine deaths with full trisomy 15

“…Mosaic trisomy 15 appears to be a rare condition in liveborn children and fetuses. The features of mosaic trisomy 15 have been described in approximately 10 reports in the published literature . Two liveborn infants with complete trisomy 15 have been described .…”

“…The features of mosaic trisomy 15 have been described in approximately 10 reports in the published literature. 4,5 Two liveborn infants with complete trisomy 15 have been described. 2,3 However, mosaic trisomy 15 may be overlooked due to low levels of mosaicism.…”

“…It accounts for 7.6% of all trisomic spontaneous abortions and 1.7% of all first trimester pregnancy losses . The phenotype of trisomy 15 is severe and includes craniofacial dysmorphisms, multiple organ malformations, and intrauterine growth restriction . However, this is primarily based on live births with mosaic trisomy 15, and little is known about the phenotypic consequences of full trisomy 15 on early human development…”

“…1 The phenotype of trisomy 15 is severe and includes craniofacial dysmorphisms, multiple organ malformations, and intrauterine growth restriction. [2][3][4][5] However, this is primarily based on live births with mosaic trisomy 15, and little is known about the phenotypic consequences of full trisomy 15 on early human development. 6 Usually, trisomy 15 is diagnosed cytogenetically in first-trimester miscarriages.…”