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


METHODS
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.


CONCLUSIONS
We hereby expand the clinical spectrum of this rare cytogenetic disorder and suggest a possible mechanism for the pathogenesis of associated congenital vascular malformations.
Department of Pathology and Laboratory Medicine, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, Pennsylvania.
Jinglan
J
Liu
Reena
R
Jethva
Michael T
MT
Del Vecchio
John E
JE
Hauptman
Judy M
JM
Pascasio
Jean-Pierre
JP
de Chadarévian
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002882:Chromosomes, Human, Pair 13; D005183:Failure to Thrive; D005819:Genetic Markers; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006391:Hemangioma / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D055092:Laryngomalacia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013398:Sudden Infant Death / Q000175:diagnosis; D058670:Tetrasomy / Q000473:pathology* / Q000503:physiopathology
D005819:Genetic Markers
EFNB2; hemangioma; neocentromere; small supernumerary marker chromosome; tetrasomy 13q32qter