一名巴西男孩患Aarskog综合征，其父母为近亲结婚。
Aarskog syndrome in a Brazilian boy born to consanguineous parents.
作者信息
Guion-Almeida M L, Richieri-Costa A
机构信息
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
出版信息
Am J Med Genet. 1992 Jul 15;43(5):808-10. doi: 10.1002/ajmg.1320430511.
PMID:1642267
Abstract
We report on a Brazilian boy (F = 1/16) born to consanguineous parents and presenting with typical Aarskog syndrome. Genetic aspects and phenotypic manifestations of this patient are compared with those of the (X-linked) Aarskog syndrome and with the autosomal recessive faciodigitogenital syndrome.
摘要
我们报告了一名巴西男孩（女性，1/16），其父母为近亲结婚，患有典型的阿斯克格综合征。将该患者的遗传特征和表型表现与（X连锁）阿斯克格综合征以及常染色体隐性面指生殖器综合征进行了比较。
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