Naguib K K, Teebi A S, Farag T I, al-Awadi S A, el-Khalifa M Y
Kuwait Medical Genetics Centre, Maternity Hospital, Safat.
Am J Med Genet. 1989 Jun;33(2):180-1. doi: 10.1002/ajmg.1320330208.
We report an Arab Bedouin family including four males with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal herniae, cryptochidism, and persistence of Müllerian derivatives. Histopathological studies confirmed the presence of both testicular tissue and Müllerian derivatives. The presence of two affected brothers and two affected maternal uncles suggests X-linked inheritance. Autosomal recessive determination with male sex limitation is also a possibility based on parental consanguinity in one sibship.
我们报告了一个阿拉伯贝都因家族，其中四名男性患有子宫疝综合征。所有人都具有男性染色体构成和表型，患有腹股沟疝、隐睾症以及苗勒管衍生物持续存在。组织病理学研究证实了睾丸组织和苗勒管衍生物的存在。两名患病兄弟和两名患病的舅舅表明存在X连锁遗传。基于一个同胞关系中的父母近亲结婚，常染色体隐性遗传伴男性性别限制也有可能。
