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PMID: 649173 Published · ppublish English Case Reports Journal Article

A case of ring Y chromosome.

Human genetics ·Vol. 42 ·No. 1 ·1978-05-16 ·Pages 89-91

Taillemite JL, van den Akker J, Portnoi MF, Le Porrier N, Marmor D, Bouillie J, Roux C

Abstract

Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.

MeSH Terms
Disorders of Sex Development/genetics Humans Infant Infant, Newborn Karyotyping Male Sex Chromosome Aberrations/diagnosis Sex Chromosomes Y Chromosome
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Taillemite J L
van den Akker J
Portnoi M F
Le Porrier N
Marmor D
Bouillie J
Roux C
References (8)
8 references, click to expand
  1. Y ring chromosome associated with gonadoblastoma in situ.
    Obstet Gynecol. 1973 Jun;41(6):897-901 PMID: 4708485
  2. [A rare structural anomaly of the Y chromosome: Y ring (author's transl)].
    Arch Genet (Zur). 1974;47(1):52-9 PMID: 4469774
  3. 45,X-46,Xr(Y) in a case of asymmetrical testicular differentiation.
    Ann Genet. 1974 Mar;17(1):37-40 PMID: 4546344
  4. Meiotic studies on a subfertile patient with a ring Y chromosome.
    Cytogenetics. 1971;10(4):295-304 PMID: 5127018
  5. 45,X-45,X, ace(?Yp)plus-46,X,r(Y) in a phenotypically normal newborn male.
    Humangenetik. 1974 May 17;22(2):177-80 PMID: 4135787
  6. Ring Y chromosome without mosaicism.
    Birth Defects Orig Artic Ser. 1976;12(5):105-12 PMID: 953209
  7. Ring Y chromosome: 45,X/46,Xr(Y) chromosome mosaicism in a phenotypically normal male with azoospermia.
    Hum Genet. 1976 Sep 10;34(1):99-102 PMID: 965013
  8. Abnormalities of human sex chromosomes. I. A ring Y without mosaiciam.
    Ann Genet. 1973 Dec;16(4):225-31 PMID: 4544085
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291630
Published
1978-05-16
Pages
89-91
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291630 View journal details
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