title: A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report.
abstract: Here we present a male newborn with multiple congenital anomalies who also has an extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X, without any mosaicism. SRY gene was positive by polymerase chain reaction (PCR), and rearranged on distal part of the 7th chromosome by fluorescence in situ hybridization (FISH) analysis. SRY, normally located on the Y chromosome, is the most important gene that plays a role in the development of male sex. SRY gen may be translocated onto another chromosome, mostly X chromosome in the XX testicular DSD. On the other hand very few cases of 45 X testicular DSD were published to date. Other clinical manifestations of our patient were compatible with distal 7 q deletion syndrome. To the best of our knowledge this is the first case of 45 X testicular DSD with SRY gene rearranged on the 7th autosomal chromosome.
authors: Department of Pediatrics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey. svcnbln@hotmail.com
authors: S
authors: S
authors: Bilen
authors: Department of Pediatric Endocrinology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors: A
authors: A
authors: Okten
authors: Department of Pediatric Endocrinology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors: G
authors: G
authors: Karaguzel
authors: Department of Genetic, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors: M
authors: M
authors: Ikbal
authors: Department of Neonatology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors: Y
authors: Y
authors: Aslan
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D009030:Mosaicism; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*