PURPOSE: Patients with a karyotype of 45,X (monosomy X) normally display a female phenotype. However, in some rare cases, monosomy X is associated with maleness. Here we describe a case of a male with a 45,X karyotype and primary infertility, which prompted molecular investigation of the sex-determination gene SRY. METHODS: Karyotyping was performed by GTG-banded chromosome analysis. The presence and location of SRY was investigated using PCR and FISH, respectively. RESULTS: PCR confirmed the presence of the SRY gene while FISH analysis demonstrated its location on the p arm of chromosome 13. These findings demonstrate that autosomal retention of SRY can be sub-microscopic and emphasize the importance of PCR and FISH in the genetic workup of the monosomic X male.
PURPOSE:Patients with a karyotype of 45,X (monosomy X) normally display a female phenotype. However, in some rare cases, monosomy X is associated with maleness. Here we describe a case of a male with a 45,X karyotype and primary infertility, which prompted molecular investigation of the sex-determination gene SRY. METHODS: Karyotyping was performed by GTG-banded chromosome analysis. The presence and location of SRY was investigated using PCR and FISH, respectively. RESULTS: PCR confirmed the presence of the SRY gene while FISH analysis demonstrated its location on the p arm of chromosome 13. These findings demonstrate that autosomal retention of SRY can be sub-microscopic and emphasize the importance of PCR and FISH in the genetic workup of the monosomic X male.
Authors: J P Siffroi; B Benzacken; R Angelopoulou; C Le Bourhis; I Berthaut; S Kanafani; A Smahi; J P Wolf; J P Dadoune Journal: J Med Genet Date: 2001-11 Impact factor: 6.318
Authors: V Nataf; M V Senat; M Albert; L Bidat; P de Mazancourt; J Roume; L Allard; D Le Tessier; Y Ville; J Selva Journal: Prenat Diagn Date: 2002-08 Impact factor: 3.050
Authors: L Stuppia; G Calabrese; P Borrelli; V Gatta; E Morizio; R Mingarelli; M C Di Gilio; A Crinò; A Giannotti; G A Rappold; G Palka Journal: J Med Genet Date: 1999-09 Impact factor: 6.318
Authors: A H Sinclair; P Berta; M S Palmer; J R Hawkins; B L Griffiths; M J Smith; J W Foster; A M Frischauf; R Lovell-Badge; P N Goodfellow Journal: Nature Date: 1990-07-19 Impact factor: 49.962