Literature DB >> 1473542

Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome.

G Massa1, M Vanderschueren-Lodeweyckx, J P Fryns.   

Abstract

In the mothers of two girls with Turner syndrome due to a deletion of the short arm of an X chromosome, the same chromosomal anomaly was detected. Both mothers and daughters had short stature but normal pubertal development. Short parents and normal pubertal development do not exclude Turner syndrome in a girl with small stature.

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Year:  1992        PMID： 1473542     DOI： 10.1007/bf01954124

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Classic pages in obstetrics and gynecology by Henry H. Turner. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, vol. 23, pp. 566-574, 1938.

Authors: 
Journal:  Am J Obstet Gynecol       Date:  1972-05-15       Impact factor: 8.661

2.  Clinical and cytogenetic aspects of X-chromosome deletions.

Authors:  B Goldman; P E Polani; M G Daker; R R Angell
Journal:  Clin Genet       Date:  1982-01       Impact factor: 4.438

3.  The various phenotypes in Xp deletion. observations in eleven patients.

Authors:  J P Fryns; P Petit; H Van den Berghe
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I.

Authors:  J M Tanner; R H Whitehouse; M Takaishi
Journal:  Arch Dis Child       Date:  1966-10       Impact factor: 3.791

Review 5.  Turner syndrome.

Authors:  B Lippe
Journal:  Endocrinol Metab Clin North Am       Date:  1991-03       Impact factor: 4.741

6.  Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Authors:  M Fraccaro; P Maraschio; F Pasquali; S Scappaticci
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

7.  Age and height at diagnosis in Turner syndrome: influence of parental height.

Authors:  G G Massa; M Vanderschueren-Lodeweyckx
Journal:  Pediatrics       Date:  1991-12       Impact factor: 7.124

8.  Fertility in 47,XXX and 45,X patients.

Authors:  J Dewhurst
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

9.  Fertility in patients with X chromosome deletions.

Authors:  J P Fryns; A Kleczkowska; P Petit; H van den Berghe
Journal:  Clin Genet       Date:  1982-08       Impact factor: 4.438

10.  Linear growth in patients with Turner syndrome: influence of spontaneous puberty and parental height.

Authors:  G Massa; M Vanderschueren-Lodeweyckx; P Malvaux
Journal:  Eur J Pediatr       Date:  1990-01       Impact factor: 3.183
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  7 in total

1.  A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.

Authors:  K L Lachlan; S Youings; T Costa; P A Jacobs; N S Thomas
Journal:  Hum Genet       Date:  2005-11-08       Impact factor: 4.132

2.  Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.

Authors:  A Milatovich; T Kitamura; A Miyajima; U Francke
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

3.  Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.

Authors:  C A Boucher; C A Sargent; T Ogata; N A Affara
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

4.  Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

Authors:  A R Zinn; V S Tonk; Z Chen; W L Flejter; H A Gardner; R Guerra; H Kushner; S Schwartz; V P Sybert; D L Van Dyke; J L Ross
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

Review 5.  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

6.  Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.

Authors:  Daniel W Bellott; Jennifer F Hughes; Helen Skaletsky; Laura G Brown; Tatyana Pyntikova; Ting-Jan Cho; Natalia Koutseva; Sara Zaghlul; Tina Graves; Susie Rock; Colin Kremitzki; Robert S Fulton; Shannon Dugan; Yan Ding; Donna Morton; Ziad Khan; Lora Lewis; Christian Buhay; Qiaoyan Wang; Jennifer Watt; Michael Holder; Sandy Lee; Lynne Nazareth; Jessica Alföldi; Steve Rozen; Donna M Muzny; Wesley C Warren; Richard A Gibbs; Richard K Wilson; David C Page
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

7.  A transgenic system for generation of transposon Ac/Ds-induced chromosome rearrangements in rice.

Authors:  Chuanhe Yu; Fangpu Han; Jianbo Zhang; James Birchler; Thomas Peterson
Journal:  Theor Appl Genet       Date:  2012-07-14       Impact factor: 5.699
  7 in total

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