Literature DB >> 3881955

Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities.

N Fitch, C L Richer, L Pinsky, A Kahn.   

Abstract

We report on a patient whose karyotype is 45,X/46,X,del(Y) (pter----q11.212). We also present a review of literature on the Y chromosome in which evidence is presented that there are genes on the Y chromosome that prevent Ullrich-Turner syndrome manifestations; aid in testes maturation and spermatogenesis; and affect height, tooth size, and bone maturation.

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Year:  1985        PMID: 3881955     DOI: 10.1002/ajmg.1320200106

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

Review 1.  Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.

Authors:  G C Beverstock; J D MacFarlane; H Veenema; H Hoekman; P J Goodfellow
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

2.  Expectation-maximization algorithm for determining natural selection of Y-linked genes through two-sex branching processes.

Authors:  M González; C Gutiérrez; R Martínez
Journal:  J Comput Biol       Date:  2012-08-27       Impact factor: 1.479

3.  Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females.

Authors:  U Müller; T Donlon; M Schmid; N Fitch; C L Richer; M Lalande; S A Latt
Journal:  Nucleic Acids Res       Date:  1986-08-26       Impact factor: 16.971

4.  Ultrasound identification of apparently normal male genitalia in a 46,X,+mar fetus.

Authors:  R L Neu; W F O'Brien; B G Kousseff; T A Tedesco; M J Farmelo; Y P Essig; K L Miller; P M Nichols
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

5.  Y chromosome R-bands.

Authors:  C L Richer; R Drouin; N Fitch
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Azoospermia in mice with targeted disruption of the Brek/Lmtk2 (brain-enriched kinase/lemur tyrosine kinase 2) gene.

Authors:  Seiji Kawa; Chizuru Ito; Yoshiro Toyama; Mamiko Maekawa; Tohru Tezuka; Takahisa Nakamura; Takanobu Nakazawa; Kazumasa Yokoyama; Nobuaki Yoshida; Kiyotaka Toshimori; Tadashi Yamamoto
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-08       Impact factor: 11.205

7.  A boy with 46,X,+mar presenting gynecomastia and short stature.

Authors:  Ki Eun Kim; Ye Jin Kim; Mo Kyoung Jung; Hyun-Wook Chae; Ah Reum Kwon; Woo Jung Lee; Duk-Hee Kim; Ho-Seong Kim
Journal:  Ann Pediatr Endocrinol Metab       Date:  2017-12-31
  7 in total

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