Reardon W, Gibbons R J, Winter R M, Baraitser M
Department of Clinical Genetics and Fetal Medicine, Hospital for Sick Children, London, United Kingdom.
Am J Med Genet. 1995 Jan 30;55(3):285-7. doi: 10.1002/ajmg.1320550308.
Genital abnormalities have been noted in several patients with the X-linked form of alpha-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as male pseudohermaphroditism.
在几例患有X连锁型α地中海贫血和智力迟钝综合征（ATR-X）的患者中发现了生殖器异常。该病症的最初临床报告记录了一名表型为女性但核型为46,XY的患者。现在我们又发现了另外2名患有外生殖器异常的同胞，表现为男性假两性畸形。
