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PMID: 926138 Published · ppublish English Case Reports Journal Article

X/XYq - mosaicism and mixed gonadal dysgenesis.

Journal of medical genetics ·Vol. 14 ·No. 4 ·1977-08-00 ·Pages 262-5

Yunis E, Silva R, Ramirez E, Nossa MA

Abstract

A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the present case.

MeSH Terms
Child, Preschool Chromosomes, Human Dermatoglyphics Genitalia, Male/abnormalities Humans Karyotyping Male Mosaicism Sex Chromosome Aberrations Testosterone/blood Y Chromosome
Chemicals
Testosterone
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Yunis E
Silva R
Ramirez E
Nossa M A
References (9)
9 references, click to expand
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    Lancet. 1961 Aug 5;2(7197):294-5 PMID: 13695001
  2. Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics.
    Hereditas. 1971;68(2):317-24 PMID: 4142012
  3. XY-XYY mosaicism associated with major genital defects.
    Clin Genet. 1974;5(2):91-5 PMID: 4151404
  4. Dicentric Y chromosome in mixed gonadal dysgenesis.
    J Med Genet. 1975 Jun;12(2):210-2 PMID: 49429
  5. Mixed gonadal dysgenesis.
    Pediatrics. 1973 Nov;52(5):725-42 PMID: 4147604
  6. A Y-autosome translocation 46,X,t(Yq-7q+) associated with multiple congenital anomalies.
    J Pediatr. 1973 Mar;82(3):495-8 PMID: 4349228
  7. Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism.
    Ann Genet. 1974 Mar;17(1):5-9 PMID: 4546340
  8. Non-fluorescent Y chromosome in a 45,X-46,XY mosaic.
    Ann Genet. 1972 Jun;15(2):107-10 PMID: 4537721
  9. A familial Y-autosome translocation in man.
    Clin Genet. 1971;2(1):1-6 PMID: 5111751
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1977-08-00
Pages
262-5
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1013580
Subset
IM
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