体质性骨病(Constitutional Disease of Bone)为骨的先天性系统性疾病。虽属一组庞大的骨生长发育障碍性疾患．但多数疾病为罕少见病，病种繁多，名称混乱．所属的综台征层出不穷，令人望而生畏，同一疾病又冠以不同名称，使临床X线诊...体质性骨病(Constitutional Disease of Bone)为骨的先天性系统性疾病。虽属一组庞大的骨生长发育障碍性疾患．但多数疾病为罕少见病，病种繁多，名称混乱．所属的综台征层出不穷，令人望而生畏，同一疾病又冠以不同名称，使临床X线诊断倍感田惑，如何使这一庞杂的骨病清晰化，正确的确立一些诊断原则，确是目前一大难题。展开更多
Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been exp...Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient. We also propose that the patient’s azoospermia may be related to the constitutional mosaic trisomy 21 and thus resulting in a late onset of testicular failure.展开更多
文摘体质性骨病(Constitutional Disease of Bone)为骨的先天性系统性疾病。虽属一组庞大的骨生长发育障碍性疾患．但多数疾病为罕少见病，病种繁多，名称混乱．所属的综台征层出不穷，令人望而生畏，同一疾病又冠以不同名称，使临床X线诊断倍感田惑，如何使这一庞杂的骨病清晰化，正确的确立一些诊断原则，确是目前一大难题。
文摘Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient. We also propose that the patient’s azoospermia may be related to the constitutional mosaic trisomy 21 and thus resulting in a late onset of testicular failure.
