| Literature DB >> 29142768 |
Sevcan Tug Bozdogan1, Atil Bisgin1.
Abstract
Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome.Entities:
Keywords: aneuploidy; chromosome; syndrome
Year: 2017 PMID: 29142768 PMCID: PMC5683955 DOI: 10.1055/s-0037-1604098
Source DB: PubMed Journal: J Pediatr Genet ISSN: 2146-460X