Literature DB >> 1487236

Absence of Turner stigmata in a 46,XYp-female.

U Müller1, V G Kirkels, J M Scheres.   

Abstract

A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans.

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Year:  1992        PMID： 1487236     DOI： 10.1007/bf00220069

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  17 in total

1.  Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome.

Authors:  E M Fisher; P Beer-Romero; L G Brown; A Ridley; J A McNeil; J B Lawrence; H F Willard; F R Bieber; D C Page
Journal:  Cell       Date:  1990-12-21       Impact factor: 41.582

2.  Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome.

Authors:  W Just; C Geerkens; K R Held; W Vogel
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  A physical map of the human Y-chromosome short arm.

Authors:  U Müller; M Lalande
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

4.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

5.  A pseudoautosomal gene in man.

Authors:  P J Goodfellow; S M Darling; N S Thomas; P N Goodfellow
Journal:  Science       Date:  1986-11-07       Impact factor: 47.728

6.  Genetic evidence equating SRY and the testis-determining factor.

Authors:  P Berta; J R Hawkins; A H Sinclair; A Taylor; B L Griffiths; P N Goodfellow; M Fellous
Journal:  Nature       Date:  1990-11-29       Impact factor: 49.962

7.  Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.

Authors:  R G Rosenfeld; L Luzzatti; R L Hintz; O J Miller; G C Koo; S S Wachtel
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

8.  Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female.

Authors:  U Müller; M Lalande; T Donlon; S A Latt
Journal:  Nucleic Acids Res       Date:  1986-02-11       Impact factor: 16.971

9.  Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region.

Authors:  N M Gough; D P Gearing; N A Nicola; E Baker; M Pritchard; D F Callen; G R Sutherland
Journal:  Nature       Date:  1990-06-21       Impact factor: 49.962

10.  A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.

Authors:  A H Sinclair; P Berta; M S Palmer; J R Hawkins; B L Griffiths; M J Smith; J W Foster; A M Frischauf; R Lovell-Badge; P N Goodfellow
Journal:  Nature       Date:  1990-07-19       Impact factor: 49.962
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  6 in total

1.  Chromosomal localisation of a Y specific growth gene(s).

Authors:  T Ogata; K Tomita; A Hida; N Matsuo; Y Nakahori; Y Nakagome
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

2.  Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X.

Authors:  C Geerkens; W Just; K R Held; W Vogel
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

Review 3.  Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Authors:  T Ogata; C Tyler-Smith; S Purvis-Smith; G Turner
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

Review 4.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

Review 5.  Genetics of the human Y chromosome and its association with male infertility.

Authors:  Stacy Colaco; Deepak Modi
Journal:  Reprod Biol Endocrinol       Date:  2018-02-17       Impact factor: 5.211

Review 6.  The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility.

Authors:  Fabrizio Signore; Caterina Gulìa; Raffaella Votino; Vincenzo De Leo; Simona Zaami; Lorenza Putignani; Silvia Gigli; Edoardo Santini; Luca Bertacca; Alessandro Porrello; Roberto Piergentili
Journal:  Genes (Basel)       Date:  2019-12-29       Impact factor: 4.096
  6 in total

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