Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.

In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.

ACE gene insertion/deletion polymorphism and renal scarring in children with urinary tract infections.

Urinary tract infection is a common bacterial disease that presents during childhood and may lead to renal scarring. Several studies have shown a strong association between the angiotensin converting enzyme (ACE) deletion polymorphism and renal scarring in children with vesicoureteric reflux (VUR). The purpose of this study was to investigate the possible correlation between the ACE deletion polymorphism and renal scarring in 186 children with urinary tract infection (UTI), of whom 90 were renal scar positive and 96 were renal scar negative.

Long survival in a 69,XXX triploid infant in Greece.

The live birth of a triploidy infant is a very rare event and death usually occurs within the first hours of life. Triploid cases with a survival of more than two months are infrequent. We report on an infant with a 69,XXX chromosome constitution who survived 164 days.