A Case of Prader-Willi Syndrome with an Unusually Large 15q Deletion Due to an Unbalanced Translocation to Chromosome 2 45,XX,-15, der(2) t(2;15)(q37:q13)

Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70% of the patients have a paternal deletion on chromosome 15q11-13, which is mainly a microdeletion, and a large deletion due to an unbalanced structural translocation of the proximal long arm of chromosome 15 to several other chromosomes is rarely found. We encountered a neonatal case with Prader-Willi syndrome who had sustained hypotonia and feeding difficulty. On high-resolution chromosome analysis, deletion of the short arm and the proximal part of the long arm of chromosome 15, with unbalanced translocation of the remaining part of chromosome 15(q13-qter) to the terminal part q37 of chromosome 2, was shown to be . Through FISH (Fluorescence in situ hybridization) and methylation-specific DNA PCR, we confirmed the deleted q11-13 was derived from the father.

A Case of Right Coronary Artery to Left Ventricle Fistula with Progression to Spontaneous Closure: Echocardiographic Findings

Coronary artery fistula (CAF) is a rare congenital cardiac anomaly, which mainly drains to the right side heart. As the progression to spontaneous closure in CAF was rare, it needed surgery or catheteric embolization in asymptomatic patients due to the future risk of congestive heart failure, myocardiac infarction or sudden death. With the advent of high resolution two-dimensional and color doppler echocardiography during the past decade, more cases of CAF have been diagnosed and spontaneously closed cases have been increased. Here we report a healthy neonate except heart murmur, who showed a right coronary to left ventricle fistula with progression to spontaneous closure at 11months of age. As the natural course of CAF is still poorly defined and spontaneous closure is increasing, it will be desirable to be followed up regularly by echocardiography in asymptomatic cases, rather than to be corrected surgically.