Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord

• Published in: Birth defects research. A Clinical and molecular teratology 2013-12, Vol.97 (12), p.812-815
• Main Authors: Liu, Jinglan, Jethva, Reena, Del Vecchio, Michael T., Hauptman, John E., Pascasio, Judy M., de Chadarévian, Jean-Pierre
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Abnormalities, Multiple - physiopathology; Biological and medical sciences; Case reports; Chromosomes, Human, Pair 13; EFNB2; Embryology: invertebrates and vertebrates. Teratology; Failure to Thrive; Fundamental and applied biological sciences. Psychology; Genetic Markers; Head and Neck Neoplasms - genetics; Head and Neck Neoplasms - pathology; Head and Neck Neoplasms - physiopathology; hemangioma; Hemangioma - genetics; Hemangioma - pathology; Hemangioma - physiopathology; Humans; Infant; Karyotyping; Laryngomalacia - genetics; Laryngomalacia - pathology; Laryngomalacia - physiopathology; Male; Medical sciences; neocentromere; Neural Tube Defects - genetics; Neural Tube Defects - pathology; Neural Tube Defects - physiopathology; Otorhinolaryngology. Stomatology; small supernumerary marker chromosome; Sudden Infant Death - diagnosis; Teratology. Teratogens; Tetrasomy - pathology; Tetrasomy - physiopathology; tetrasomy 13q32qter; Upper respiratory tract, upper alimentary tract, paranasal sinuses, salivary glands: diseases, semeiology
• ISSN: 1542-0752; 1542-0760
• DOI: 10.1002/bdra.23197

BACKGROUND Approximately 100 small supernumerary marker chromosomes (sSMCs) with a non–α‐satellite neocentromere structure have been reported in the literature. Of the few derived from chromosome 13, five have consisted of inverted duplicated segment 13q32qter. CASE REPORT We herein describe the sixth case, characterized by genome wide SNP array, conventional cytogenetics and FISH studies. The de novo occurrence of the marker, the poor prognosis and the presence of hemangiomas are consistent with previous cases. CONCLUSION We hereby expand the clinical spectrum of this rare cytogenetic disorder and suggest a possible mechanism for the pathogenesis of associated congenital vascular malformations. Birth Defects Research (Part A), 97:812–815, 2013. © 2013 Wiley Periodicals, Inc.