Literature DB >> 8370585

Exclusively paternal X chromosomes in a girl with short stature.

A A Schinzel1, W P Robinson, F Binkert, T Torresani, E A Werder.   

Abstract

A 13 1/2 year-old girl with short stature and very few Turner stigmata revealed 45,X/46,XX mosaicism with 90%-100% 46,XX cells in three sequential blood lymphocyte cultures. Molecular investigation of the parental origin of her X chromosomes revealed homozygosity for paternal X markers and an absence of maternal markers. Luteinizing hormone response to growth hormone releasing hormone was increased. Impaired gonadal function and shortness of stature in this case could be a result of the mild mosaicism with a 45,X cell line and/or is a consequence of the paternal-only origin of her X chromosomes.

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Mesh：

Year:  1993        PMID： 8370585     DOI： 10.1007/bf00219687

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


  3 in total

1.  Genomic imprinting: male mice with uniparentally derived sex chromosomes.

Authors:  M A Handel; P A Hunt
Journal:  Mol Reprod Dev       Date:  1991-04       Impact factor: 2.609

2.  Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards.

Authors:  N BAYLEY; S R PINNEAU
Journal:  J Pediatr       Date:  1952-04       Impact factor: 4.406

3.  Survival of XO mouse fetuses: effect of parental origin of the X chromosome or uterine environment?

Authors:  P A Hunt
Journal:  Development       Date:  1991-04       Impact factor: 6.868
  3 in total
  4 in total

Review 1.  XIST expression and X-chromosome inactivation in human preimplantation embryos.

Authors:  C J Brown; W P Robinson
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

2.  Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

Authors:  F Quan; J Janas; S Toth-Fejel; D B Johnson; J K Wolford; B W Popovich
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

3.  Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.

Authors:  B R Migeon; P Jeppesen; B S Torchia; S Fu; M A Dunn; J Axelman; B J Schmeckpeper; J Fantes; R T Zori; D J Driscoll
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

Authors:  W P Robinson; F Binkert; F Bernasconi; I Lorda-Sanchez; E A Werder; A A Schinzel
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025
  4 in total

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