CLINICAL REPORT
Mosaic Trisomy 15 in a Liveborn Infant Jacob McPadden,1 Benjamin M. Helm,1,2 Brooke B. Spangler,1,2 Leslie P. Ross,3 Debra B. Boles,4 and Samantha A. Schrier Vergano1,2* 1
Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia
2
Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, Virginia Quest Diagnostics, Denver, Colorado
3 4
Quest Diagnostics, Nichols Institute, Chantilly, Virginia
Manuscript Received: 22 September 2014; Manuscript Accepted: 21 December 2014
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. Ó 2015 Wiley Periodicals, Inc.
finding of whorled hypopigmentation, described only once prior [Knauer-Fischer et al., 2004] as well as the newly reported findings of dysplastic kidneys and unusual cerebral vasculature. Given the paucity of natural history and clinical information, we add this patient’s phenotype to that already known and review the relevant literature.
Key words: trisomy 15; mosaicism; liveborn; aneuploidy
CLINICAL REPORT
INTRODUCTION Mosaic trisomy 15 is a rare condition in liveborn children, with fewer than 10 reports in the literature over the last two decades [Isikay and Carman, 2013]. It is well known that fetuses and embryos with autosomal trisomies are at an increased risk of miscarriage, which is especially the case with trisomy 15. It accounts for 7.6% of all trisomic spontaneous abortions and 1.68% of all spontaneous abortions in the first-trimester [Simpson and Bombard, 1987]. Similar to other aneuploidies, advanced maternal age and in vitro fertilization (IVF) conceptions are thought to increase the risk for trisomy 15 [Bennett et al., 1992; Zarazoga et al., 1994; Goddijn and Leschot, 2000; Devroey and Van Steirteghem, 2004; Campbell et al., 2013]. The features of mosaic trisomy 15 are considered severe, with reports of intrauterine growth retardation (IUGR), multi-organ malformations, congenital heart defects and craniofacial dysmorphisms [Prontera et al., 2006; Isikay et al., 2013]. Additionally, there is an increased risk for features of Prader–Willi syndrome due to uniparental disomy (UPD) of chromosome 15 resulting from trisomy rescue. We describe here an additional case of a liveborn baby girl with mosaic trisomy 15. In addition to previously reported findings, our proband displayed the
Ó 2015 Wiley Periodicals, Inc.
How to Cite this Article: McPadden J, Helm BM, Spangler BB, Ross LP, Boles DB, Schrier Vergano SA. 2015. Mosaic trisomy 15 in a liveborn infant. Am J Med Genet Part A 167A:821–825.
The proband was a term African-American female infant born to a 26-year-old primigravida mother without any prior health concerns. Pregnancy was complicated by prenatal ultrasound findings of IUGR and bilateral pyelectasis. Fetal echocardiogram at 20 weeks gestational age revealed cardiomegaly, myocardial hypertrophy, pericardial effusion, and a ventricular septal defect (VSD). Vaginal delivery was induced at 39 weeks due to poor fetal growth. Birth weight was 1,830 g (
Mosaic Trisomy 15 in a Liveborn Infant Jacob McPadden,1 Benjamin M. Helm,1,2 Brooke B. Spangler,1,2 Leslie P. Ross,3 Debra B. Boles,4 and Samantha A. Schrier Vergano1,2* 1
Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia
2
Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, Virginia Quest Diagnostics, Denver, Colorado
3 4
Quest Diagnostics, Nichols Institute, Chantilly, Virginia
Manuscript Received: 22 September 2014; Manuscript Accepted: 21 December 2014
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. Ó 2015 Wiley Periodicals, Inc.
finding of whorled hypopigmentation, described only once prior [Knauer-Fischer et al., 2004] as well as the newly reported findings of dysplastic kidneys and unusual cerebral vasculature. Given the paucity of natural history and clinical information, we add this patient’s phenotype to that already known and review the relevant literature.
Key words: trisomy 15; mosaicism; liveborn; aneuploidy
CLINICAL REPORT
INTRODUCTION Mosaic trisomy 15 is a rare condition in liveborn children, with fewer than 10 reports in the literature over the last two decades [Isikay and Carman, 2013]. It is well known that fetuses and embryos with autosomal trisomies are at an increased risk of miscarriage, which is especially the case with trisomy 15. It accounts for 7.6% of all trisomic spontaneous abortions and 1.68% of all spontaneous abortions in the first-trimester [Simpson and Bombard, 1987]. Similar to other aneuploidies, advanced maternal age and in vitro fertilization (IVF) conceptions are thought to increase the risk for trisomy 15 [Bennett et al., 1992; Zarazoga et al., 1994; Goddijn and Leschot, 2000; Devroey and Van Steirteghem, 2004; Campbell et al., 2013]. The features of mosaic trisomy 15 are considered severe, with reports of intrauterine growth retardation (IUGR), multi-organ malformations, congenital heart defects and craniofacial dysmorphisms [Prontera et al., 2006; Isikay et al., 2013]. Additionally, there is an increased risk for features of Prader–Willi syndrome due to uniparental disomy (UPD) of chromosome 15 resulting from trisomy rescue. We describe here an additional case of a liveborn baby girl with mosaic trisomy 15. In addition to previously reported findings, our proband displayed the
Ó 2015 Wiley Periodicals, Inc.
How to Cite this Article: McPadden J, Helm BM, Spangler BB, Ross LP, Boles DB, Schrier Vergano SA. 2015. Mosaic trisomy 15 in a liveborn infant. Am J Med Genet Part A 167A:821–825.
The proband was a term African-American female infant born to a 26-year-old primigravida mother without any prior health concerns. Pregnancy was complicated by prenatal ultrasound findings of IUGR and bilateral pyelectasis. Fetal echocardiogram at 20 weeks gestational age revealed cardiomegaly, myocardial hypertrophy, pericardial effusion, and a ventricular septal defect (VSD). Vaginal delivery was induced at 39 weeks due to poor fetal growth. Birth weight was 1,830 g (
