16q12 microdeletion syndrome in two Japanese boys.

Microdeletion of 16q12 is a rare chromosomal abnormality. We present the cases of two Japanese patients with developmental and renal symptoms of differing clinical severity. Both patients had 16q12 interstitial microdeletions that included the entire SALL1 gene.

High cardiovascular risk factors among obese children in an urban area of Japan.

The association between degree of obesity and cardiovascular and related metabolic risk factors were examined in 355 Japanese obese school children from 11 to 12 years old. The parameters evaluated were blood pressure, serum lipids, fasting blood glucose, and serum ALT and AST. ALT, AST and triglycerides were more commonly evaluated in obese boys than in obese girls, while HDL-cholesterol was more commonly lowered in obese girls.

No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.

Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare, well-defined clinical entity. Recently, this disease was elucidated to link mutations in the SLC2A2 gene in many ethnic groups, indicating that FBS is a single gene disease. We report here an 8-month-old Turkish girl who developed characteristic findings of FBS.