Document Detail

Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs).
MedLine Citation:
PMID:  11330396     Owner:  NLM     Status:  MEDLINE    
Applying fluorescence in-situ hybridization (FISH) of various Y chromosomal DNA probes to four familial cases of human 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). Breakpoints map within Yqh and the proximal short arm of an acrocentric autosome resulting in the gain of a nucleolus organizer region (NOR) including the telomere repeat (TTAGGG)n combined with the loss of the pseudoautosomal region 2 (PAR2) at the long arm of the recipient Y chromosome. In no case could the reciprocal product of an acrocentric autosome with loss of the NOR and gain of PAR2 be detected. Using the 15p-specific classical satellite-III probe D15Z1 in two of the four Yqs probands presented here, it could be shown that the satellited material originated from the short arm of chromosome 15. In contrast to the loss of PAR2 in Yqs chromosomes, another Y chromosomal variant (Yqh-) showing deletion of long-arm heterochromatin in Yq12 has retained PAR2 referring to an interstitial deletion of Yq heterochromatin in such deleted Y chromosomes.
H Kühl; S Röttger; H Heilbronner; H Enders; W Schempp
Related Documents :
456386 - A girl with an end-to-end fusion of two x's.
8362916 - Moving satellites and unstable chromosome translocations: clinical and cytogenetic impl...
6156636 - Silver staining of the supernumerary chromosome in the cat-eye syndrome.
1433226 - The mapping of a gene for craniosynostosis: evidence for linkage of the saethre-chotzen...
7600506 - Congenital anomalies of the nail unit.
842496 - Fibrinogen seattle: a qualitatively abnormal fibrinogen in a patient with tetralogy of ...
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology     Volume:  9     ISSN:  0967-3849     ISO Abbreviation:  Chromosome Res.     Publication Date:  2001  
Date Detail:
Created Date:  2001-05-01     Completed Date:  2001-09-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9313452     Medline TA:  Chromosome Res     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  215-22     Citation Subset:  IM    
Institut für Humangenetik und Anthropologie, Universität Freiburg.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Child, Preschool
In Situ Hybridization, Fluorescence
Nucleolus Organizer Region / genetics
Sequence Deletion
Sex Chromosome Aberrations / etiology,  genetics*
Translocation, Genetic*
Y Chromosome*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Karyotyping mouse chromosomes by multiplex-FISH (M-FISH).
Next Document:  Identification and characterization of satellite III subfamilies to the acrocentric chromosomes.