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Both were mentally retarded, of short stature, and had extremely retarded bone age. In addition, they had an almost identical pattern of minor anomalies: peculiar face, hypodontia, short neck, inverted nipples, thoracolumbar scoliosis, \u201cdysplastic\u201d hips, partial clino\u2010\/syndactyly of toes.<\/jats:p><jats:p>The occurrence of a basically similar set of malformations in two sisters and the first cousin consanguinity of the parents suggests autosomal recessive inheritance. The conserved region of the SRY gene ([high mobility group] HMG box) was sequenced in the elder sib and was normal.<\/jats:p><jats:p>No consistent malformations are observed at present in agonadal patients. This supports the idea that several autosomal genes have the potential of influencing the sequence of events of sex determination. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590114","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:09:09Z","timestamp":1118513349000},"page":"62-67","source":"Crossref","is-referenced-by-count":13,"title":["Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: A new autosomal recessive syndrome"],"prefix":"10.1002","volume":"59","author":[{"given":"Ingo","family":"Kennerknecht","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"von 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