van de Vooren M J, Niermeijer M F, Hoogeboom A J
Clin Genet. 1983 Dec;24(6):439-45. doi: 10.1111/j.1399-0004.1983.tb00100.x.
A large family in which the Aarskog syndrome is transmitted in three generations was studied. In affected males, a large variability of expression was observed, while females show minor signs only. However it is sometimes possible to identify individual females as carriers. The observation of male to male transmission and the absence of symptoms in some daughters of affected male persons suggest a sex-influenced autosomal inheritance in this family. This may suggest heterogeneity in the Aarskog syndrome, since in most families described an X-linked recessive mode of inheritance was indicated.
对一个三代人均患有阿斯克格综合征的大家庭进行了研究。在患病男性中，观察到了较大的表现变异性，而女性仅表现出轻微症状。然而，有时可以识别出个别女性为携带者。男性向男性的传递以及患病男性的一些女儿没有症状的观察结果表明，这个家族中存在性连锁常染色体遗传。这可能表明阿斯克格综合征存在异质性，因为在大多数已描述的家族中显示为X连锁隐性遗传模式。
