A trisomy 13 case with Robertsonian translocation presenting with atypical findings
Demirel, G.; Oguz, S.S.; Celik, I.H.; Sandal, G.; Uras, N.; Erdeve, O.; Dilmen, U.
Genetic Counseling 21(3): 293-297
2010
ISSN/ISBN: 1015-8146 PMID: 20964120 Document Number: 643816
A trisomy 13 case with Robertsonian translocation presenting with atypical findings: Trisomy 13 is an autosomal trisomy caused by the presence of an extra copy of chromosome 13. Anomalies associated with this syndrome are severe mental retardation, coloboma, hypotonia, skeletal anomalies, midline anomalies, facial defects, holoprosencephaly, cardiac defects, omphalocele and polydactyly. Here we report a case of trisomy 13 with Robertsonian translocation, 160 day old, presenting with atypical findings like posterior fusion defect of the vertebra, hyperplasia of the right lobe of the liver, dilatation at pelvicalyxial system, scoliosis and complex heart disease including cardiomyopathy.