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PMID: 1496984 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp.

American journal of human genetics ·Vol. 51 ·No. 3 ·1992-09-00 ·Pages 526-33

Mohandas TK, Speed RM, Passage MB, Yen PH, Chandley AC, Shapiro LJ

Abstract

Meiotic studies were undertaken in a 24-year-old male patient with short stature, chondrodysplasia punctata, ichthyosis, steroid sulfatase deficiency, and mild mental retardation with an inherited cytologically visible deletion of distal Xp. Molecular investigations showed that the pseudoautosomal region as well as the steroid sulfatase gene were deleted, but telomeric sequences were present at the pter on the deleted X chromosome. A complete failure of sex-chromosome pairing was observed in the primary spermatocytes of the patient. Telomeric approaches between the sex chromosomes were made at zygotene in some cells, but no XY synaptonemal complex was formed. The sex chromosomes were present as univalents at metaphase I, and germ-cell development was arrested between metaphase I and metaphase II in the vast majority of cells, consistent with the azoospermia observed in the patient. The failure of XY pairing in this individual indicates that the pseudoautosomal sequences play an important role in initiating XY pairing and formation of synaptonemal complex at meiosis.

MeSH Terms
Adult Chromosome Deletion Fluorescence Humans Male Meiosis/genetics Microscopy, Electron Nucleic Acid Hybridization Sex Chromosomes/ultrastructure
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Mohandas T K
Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance 90509.
Speed R M
Passage M B
Yen P H
Chandley A C
Shapiro L J
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1992-09-00
Pages
526-33
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1682713
Subset
IM
Grants
NICHD NIH HHS · HD-12178 · United States
NICHD NIH HHS · HD-15193 · United States
External Links
PubMed source PMC Full Text View journal details
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