Rare rearrangements: a "jumping satellite" in one family and autosomal location of the SRY gene in an XX male.
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.
Chien
Shu-Chin
SC
Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
Li
Yueh-Chun
YC
Ho
Ming
M
Hsu
Pei-Ching
PC
Teng
Ru-Hsiou
RH
Lin
Wei-De
WD
Tsai
Fuu-Jen
FJ
Lin
Chyi-Chyang
CC
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
D051876:Sex-Determining Region Y Protein