title: Rare rearrangements: a "jumping satellite" in one family and autosomal location of the SRY gene in an XX male.
abstract: A satellited short arm of the Y chromosome (Yps) is rare. Only one de novo case of Yps has been documented. Here we report the prenatal diagnosis of Yps in a male fetus with a karyotype, 46,XYps. Family chromosome study showed that the father and a sister had a satellited short arm of the X chromosome (Xps). A phenotypically normal male child with the Yps was delivered. This is the first familial case showing a satellite "jumping" from Xp to Yp. We propose that it resulted from a crossover within the pseudoautosomal region 1 (PAR1) on the distal Xp and Yp during paternal meiosis. In addition to the rare translocation mentioned above, relocation of the SRY gene onto an autosome in XX males is also a rare event. Herein we report a phenotypically normal male fetus with a 46,XX karyotype. Fluorescence in situ hybridization (FISH) study showed that the SRY locus had been transferred to the terminal short arm of a chromosome 3. The terminal short arm deletion of this chromosome 3 was also confirmed by FISH study with a subtelomeric probe and the breakpoint of the terminal deletion was estimated between 446 and 664 kb from the 3p telomere by real-time qPCR study with a gene sequence and STS markers in this region. A healthy boy was delivered at 37 weeks of gestation. At 1-year follow-up, the child's growth pattern and development were appropriate for age.
authors.affiliation: Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Shu-Chin
authors.initials: SC
authors.lastname: Chien
authors.forename: Yueh-Chun
authors.initials: YC
authors.lastname: Li
authors.forename: Ming
authors.initials: M
authors.lastname: Ho
authors.forename: Pei-Ching
authors.initials: PC
authors.lastname: Hsu
authors.forename: Ru-Hsiou
authors.initials: RH
authors.lastname: Teng
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Chyi-Chyang
authors.initials: CC
authors.lastname: Lin
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D004586:Electrophoresis; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D051876:Sex-Determining Region Y Protein