Satellited Y chromosomes: Structure, origin, and clinical significance

  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},
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
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)
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
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.
The prenatal diagnosis of familial satellited Yq chromosomes
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
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
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
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
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
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.


Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.
  • R. Davis
  • Biology
    Journal of medical genetics
  • 1981
The theory that separate genes independently control the initial development and maturation of the tests (on the long and short arms of the Y, respectively) may be premature and recently proposed arguments in its favour are examined.
Two cases of prenatal diagnosis of a satellited Yq chromosome
In intrauterine diagnosis of a satellited Yq in two unrelated families, an AgNOR positive Yqs chromosome was confirmed in normal males in three generations of both families and was considered a normal variant.
[Unusual chromosomal rearrangement. An autosomal telomeric translocation on a multicentury satellited Y (Yqs) chromosome].
A new born male infant with craniostenosis and minor phenotypic malformations was found to have a satellited Yq chromosome with, translocated on its satellite, a segment from the terminal part of the
Direct analysis of the chromosome constitution of human spermatozoa
The use of hamster eggs to activate human sperm to the point where their chromosomes can be studied directly is reported here and some claims have now been retracted.
Familial Y-autosome translocation in two unrelated girls.
Two unrelated girls presenting with developmental delay were found to have familial Y-autosome translocations, involving only the Y heterochromatin on the basis of Q, C, SS, distamycin A and DAPI techniques.
N-Band polymorphism of human acrocentric chromosomes and its relevance to satellite association
It appeared that N-bands were present along the whole length of the satellite stalk, the size of which could possibly reflect the amount of rDNA present in the nucleolar organizers in human chromosomes.
Cytologic evidence for three human X-chromosomal segments escaping inactivation
The studies reveal that two distal segments of Xp replicate early in S-phase and therefore may not be subject to random inactivation and may be interpreted as a remnant left untouched by the differentiation of heteromorphic sex chromosomes from originally homomorphic autosomes.
Human Q and C chromosomal variations: distribution and incidence.
It is evident from this study that the magnitude of chromosomal variation in human populations is far greater than heretofore believed and the combination of Q- and C-banding procedures will yield much more information than either technique used alone and is therefore the preferred approach to many population and gene localization studies.
A synopsis of the human Y chromosome
SummaryPhenotypic features and functions known to depend on the presence of the Y chromosome or the H-Y antigen are discussed in relation to structural anomalies of the Y chromosome and other