Literature DB >> 6745919

X long-arm deletions. A review of non-mosaic cases studied with banding techniques.

L Skibsted, H Westh, E Niebuhr.   

Abstract

A woman with secondary amenorrhoea and an X long-arm deletion (pter----q21:) is described and compared with 30 adult non-mosaic, banded cases. Approximately 50% of the patients had gonadal dysgenesis associated with a higher frequency of short stature and "Turner stigmata" than in women with indication of ovarian activity. It is suggested that preservation of bands Xq26----28 may be decisive for normal ovarian function.

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Year:  1984        PMID： 6745919     DOI： 10.1007/BF00270550

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


  34 in total

1.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

2.  Complete deletion of long arm of X chromosome in woman without Turner syndrome.

Authors:  J R Teyssier; J Bajolle Caron
Journal:  Lancet       Date:  1981-05-23       Impact factor: 79.321

3.  [Normal 46,XX daughter born to a 45,X/46,X,del(X)(q25) deletion (author's transl)].

Authors:  J de Grouchy; E Thibaud; C Turleau; M Roubin; F Rose; O Cachin; R Rappaport
Journal:  Ann Genet       Date:  1981

4.  X chromosome constitution and the human female phenotype.

Authors:  E Therman; C Denniston; G E Sarto; M Ulber
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  A teen-ager with 46,X,del(X)(q21).

Authors:  P K Srivastava; F Fristoe; R E McDavid; J F Townsend
Journal:  South Med J       Date:  1979-11       Impact factor: 0.954

6.  Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea.

Authors:  U Ruthner; S Maschik; F Friedrich; G Breitenecker
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

7.  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

8.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

Authors:  A Tabor; O Andersen; C Lundsteen; E Niebuhr; H Sardemann
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  X inactivation in man: a woman with t(Xq--;12q+).

Authors:  G E Sarto; E Therman; K Patau
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025
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  11 in total

1.  What determines the age at the menopause?

Authors:  J Ginsberg
Journal:  BMJ       Date:  1991-06-01

2.  Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.

Authors:  M Schmidt; A Certoma; D Du Sart; P Kalitsis; M Leversha; K Fowler; L Sheffield; I Jack; D M Danks
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

3.  A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes.

Authors:  H M Yang; T Lund; E Niebuhr; S Nørby; M Schwartz; L Shen
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

4.  Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

5.  An analysis of Xq deletions.

Authors:  P Maraschio; R Tupler; L Barbierato; E Dainotti; D Larizza; F Bernardi; H Hoeller; A Garau; L Tiepolo
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

6.  A de novo X;13 translocation with abnormal phenotype.

Authors:  S V Hodgson; J C Barber; A Dowie; V Dubowitz
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

7.  Investigation of a female manifesting Becker muscular dystrophy.

Authors:  I A Glass; L V Nicholson; E Watkiss; M A Johnson; R G Roberts; S Abbs; S Brittain-Jones; H G Boddie
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

8.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

Review 9.  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

10.  A Turner syndrome neurocognitive phenotype maps to Xp22.3.

Authors:  Andrew R Zinn; David Roeltgen; Gerry Stefanatos; Purita Ramos; Frederick F Elder; Harvey Kushner; Karen Kowal; Judith L Ross
Journal:  Behav Brain Funct       Date:  2007-05-21       Impact factor: 3.759
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