Literature DB >> 1351700

Molecular study of 45,X conceptuses: correlation with clinical findings.

I Lorda-Sanchez1, F Binkert, M Maechler, A Schinzel.   

Abstract

The parental origin of the single X in 45 cases (40 liveborns and 5 fetuses) with a 45,X karyotype was studied using polymorphic DNA probes. The single X was paternal in origin (Xp) in 10 cases (22.2%) and maternal (Xm) in 35 cases (77.8%). Y chromosome material was detected in 1 out of the 35 cases with a 45,Xm constitution. Analysis of parental ages and clinical data of the patients with respect to the origin of the single X revealed no significant differences between the origins.

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Mesh：

Year:  1992        PMID： 1351700     DOI： 10.1002/ajmg.1320420414

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


  10 in total

1.  Sporadic aneuploidy in PHA-stimulated lymphocytes of Turner's syndrome patients.

Authors:  Orit Reish; Nirit Brosh; Rima Gobazov; Malka Rosenblat; Vitalia Libman; Maya Mashevich
Journal:  Chromosome Res       Date:  2006-07-12       Impact factor: 5.239

2.  Detection of Y mosaicism in patients with Turner's syndrome.

Authors:  C E Chu; J M Connor; M D Donaldson; C J Kelnar; P J Smail; S A Greene
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

Review 3.  Molecular biology of Turner's syndrome.

Authors:  C E Chu; J M Connor
Journal:  Arch Dis Child       Date:  1995-04       Impact factor: 3.791

4.  Possible role of imprinting in the Turner phenotype.

Authors:  C E Chu; M D Donaldson; C J Kelnar; P J Smail; S A Greene; W F Paterson; J M Connor
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

Review 5.  A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.

Authors:  A L Collins; A E Cockwell; P A Jacobs; N R Dennis
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

6.  Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

Authors:  C H Gravholt; S Juul; R W Naeraa; J Hansen
Journal:  BMJ       Date:  1996-01-06

7.  Complex genetic counseling and exclusion of Duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF).

Authors:  T H Bui; M Anvret; N Dahl; L Garoff; P Sjöblom; T Hillensjö
Journal:  J Assist Reprod Genet       Date:  1994-03       Impact factor: 3.412

Review 8.  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

9.  Turner syndrome and the evolution of human sexual dimorphism.

Authors:  Bernard Crespi
Journal:  Evol Appl       Date:  2008-02-22       Impact factor: 5.183

10.  Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome.

Authors:  Francisco Alvarez-Nava; Roberto Lanes; José Miguel Quintero; Mirta Miras; Hugo Fideleff; Verónica Mericq; Henry Marcano; William Zabala; Marisol Soto; Tatiana Pardo; Lisbeth Borjas; Joalice Villalobos; Peter Gunczler; Nancy Unanue; Natalia Tkalenko; Adriana Boyanofsky; Liliana Silvano; Liliana Franchioni; Miriam Llano; Gabriel Fideleff; Miriam Azaretzky; Martha Suarez
Journal:  Int J Pediatr Endocrinol       Date:  2013-06-04
  10 in total

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