Nicholl R M, Grimsley L, Butler L, Palmer R W, Rees H C, Savage M O, Costeloe K
Neonatal Unit, St. Bartholomew's Hospital at Homerton, Hackney, London.
Arch Dis Child Fetal Neonatal Ed. 1994 Jul;71(1):F57-8. doi: 10.1136/fn.71.1.f57.
Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.
完整的22号染色体三体,无论有无嵌合体,均已被报道为一种独特的综合征。在本报告中,描述了一名外表为男性但具有女性残留内部器官且其核型为47,XX+22的婴儿。