Satellited Y chromosomes: Structure, origin, and clinical significance

@article{Schmid2004SatellitedYC,
  title={Satellited Y chromosomes: Structure, origin, and clinical significance},
  author={Michael Schmid and Thomas Haaf and Eva Solleder and Werner Schempp and Michael Leipoldt and Helmut Heilbronner},
  journal={Human Genetics},
  year={2004},
  volume={67},
  pages={72-85}
}
SummaryThree cases of inherited satellited Y chromosomes (Yqs) were analysed using several cytogenetic techniques. The cytogenetic data of the 14 cases of Yqs chromosomes described to date were reviewed. All Yqs chromosomes carry an active nucleolus organizer region (NOR) in their long arm and must have developed from translocations involving the short arms of the acrocentric autosomes. The structure of the heterochromatic satellite region in the Yqs chromosomes shows conspicuous inter-familial… 
A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation
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The first reported case of de novo Yps present in a phenotypically normal male is described and it is indicated that SRY was retained on the Yps and the translocation breakpoint on Yps was distal to the pseudoautosomal region.
Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs)
TLDR
It was possible to demonstrate that the formation of Yqs must have arisen from a reciprocal translocation involving the short arm of an acrocentric autosome and the heterochromatin of the long arm of the Y chromosome (Yqh).
Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations
TLDR
The present report shows that the precise identification of structural Y chromosome aberrations may be clinically important for genetic counseling and assisted reproductive technology treatment.
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TLDR
Proper genetic counseling requires the accumulation of detailed information about the clinical follow-up evaluations and determination of whether the satellited Yqs is de novo or familial.
Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR
TLDR
A patient, ascertained prenatally, with an ectopic NOR on 1p and a ring 21 chromosomes is described, indicating a de novo origin for these rearrangements in the fetus and illustrates the importance of FISH analysis with telomeric and subtelomeric probes for characterization of chromosomes with ectopicNORs.
A family case of fertile human 45,X,psu dic(15;Y) males
TLDR
In a familial case including four male patients from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype, a pseudodicentric translocation chromosome is found, that contains almost the entire chromosomes 15 and Y.
Molecular characterization of a Y;15 translocation segregating in a family
TLDR
Molecular studies showed that, in all probability, the breakpoints were near the border between Yq11.23 and Yq12, and in 15p11, respectively; the translocation is abbreviated t(Y;15)(q12;p11), which may be considered as a prototype of those translocations between YQ and the short arm of an acrocentric chromosome which have a population incidence of approximately 1 in 2,000.
Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes
TLDR
Three families in which a satellited Y chromosome (Yqs) was segregating without apparent phenotypic effect were re-investigated with non-isotopic in situ hybridization methods and showed that, in all three families, the Yqs was the result of a 15p;Yq translocation.
Rare rearrangements: A “jumping satellite” in one family and autosomal location of the SRY gene in an XX male
TLDR
This is the first familial case showing a satellite “jumping” from Xp to Yp, and it is proposed that it resulted from a crossover within the pseudoautosomal region 1 (PAR1) on the distal Xp and Yp during paternal meiosis.
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