A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high‐resolution analysis revealed the karyotype to be: 46,XX,‐3,+der(3)t(3;9)(q29;q13) de novo. A phenotype‐karyo‐type correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.

Aims/IntroductionAlthough male diabetic patients have an increased risk of fracture, there is little information about this in the literature. The association between heel bone stiffness and the lifestyle of male patients with diabetes was evaluated.Materials and MethodsThe study included 108 participants with type 2 diabetes mellitus patients and 168 age-adjusted, healthy male volunteers. None of the participants had a history of osteoporosis or other severe diseases. Heel bone stiffness was examined by quantitative ultrasound, and each participant completed a health interview survey questionnaire. Bone stiffness was taken as an indicator of bone strength. Stepwise regression analysis was used to investigate associations between bone stiffness and lifestyle-related factors, such as sunlight exposure, intake of milk or small fish, regular exercise, cigarette smoking, consumption of alcohol, and number of remaining teeth.ResultsBone stiffness showed a significant negative association with cigarette smoking [standardized coefficient (SC) = −0.297, F-value (F) = 10.059] and age (SC = −0.207, F = 7.565) in diabetic patients. Bone stiffness showed a significant negative association with age (SC = −0.371, F = 12.076) and height (SC = −0.193, F = 7.898), as well as a significant positive association with sunlight exposure (SC = 0.182, F = 9.589) and intake of small fish (SC = 0.170, F = 7.393) in controls.ConclusionsThese findings suggest that cigarette smoking and age are negatively associated with bone stiffness in Okinawan male patients with type 2 diabetes mellitus.

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