Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family.
Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family.
复制标题
与性别有关的智力低下、身材矮小、肥胖和性腺功能减退症：一个家庭的报告。
DOI：
10.1111/j.1365-2788.1982.tb00142.x
复制
发表时间：
2008
期刊：
影响因子：
--
通讯作者：
H. Hughes
中科院分区：
文献类型：
--
作者：
I. Young;H. Hughes
据报道，在一个大家庭中，至少有四名男性患有或曾经患有与身材矮小、肥胖、性腺功能减退和皮肤病有关的一种不寻常形式的智力迟钝。先证者的调查表明性腺功能减退是原发性的而不是继发性的，皮肤受损伤是鱼鳞状的。遗传方式与性别连锁完全一致。
A large family is reported in which at least four males are, or have been, affected with an unusual form of mental retardation associated with short stature, obesity, hypogonadism and skin disease. Investigations in the proband indicate that the hypogonadism is primary rather than secondary, and that the skin involvement is ichthyosiform. The mode of inheritance is entirely consistent with sex-linkage.