X Inactivation Pattern in an Unbalanced X-Autosome Translocation with Gonadal Dysgenesis

1977 ◽  
Vol 27 (6) ◽  
pp. 396-402 ◽  
Author(s):  
M. Gaál ◽  
J. László
Keyword(s):  
Gonadal Dysgenesis ◽  
X Inactivation ◽  
Autosome Translocation ◽  
Inactivation Pattern

X-inactivation pattern in three cases of X/autosome translocation

1978 ◽  
Vol 1 (3) ◽  
pp. 309-317 ◽  
Author(s):  
Bernhard U. Zabel ◽  
Walter A. Baumann ◽  
Wilfried Pirntke ◽  
Kathrein Gerhard-Ratschow ◽  
Uta Francke
Keyword(s):  
X Inactivation ◽  
Autosome Translocation ◽  
Inactivation Pattern

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency

1998 ◽  
Vol 54 (4) ◽  
pp. 349-353 ◽  
Author(s):  
Tohru Yorifuji ◽  
Junko Muroi ◽  
Ayumi Uematsu ◽  
Koichi Tanaka ◽  
Koji Kiwaki ◽  
...  
Keyword(s):  
Ornithine Transcarbamylase ◽  
X Inactivation ◽  
Inactivation Pattern ◽  
Otc Deficiency

X-inactivation pattern in carriers of X-linked retinitis pigmentosa: A valuable means of prognostic evaluation?

1993 ◽  
Vol 92 (4) ◽  
pp. 359-363 ◽  
Author(s):  
Ursula Friedrich ◽  
Mette Warburg ◽  
Arne Lund J�rgensen
Keyword(s):  
Retinitis Pigmentosa ◽  
X Inactivation ◽  
Prognostic Evaluation ◽  
Inactivation Pattern

scholarly journals Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements

2015 ◽  
Vol 135 (2) ◽  
pp. 185-192 ◽  
Author(s):  
Luiza Sisdelli ◽  
Angela Cristina Vidi ◽  
Mariana Moysés-Oliveira ◽  
Adriana Di Battista ◽  
Adriana Bortolai ◽  
...  
Keyword(s):  
X Inactivation ◽  
Inactivation Pattern ◽  
Novel Strategy ◽  
Skewed X Inactivation

Accidental X-Y recombination and the aetiology of XX males and true hermaphrodites

1988 ◽  
Vol 322 (1208) ◽  
pp. 133-144 ◽  
Keyword(s):  
Sex Determination ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
X Inactivation ◽  
Predicted Amino Acid Sequence ◽  
Dna Library ◽  
Xy Gonadal Dysgenesis ◽  
Y Chromosomes ◽  
Xx Males ◽  
Synthetic Oligonucleotides

Accidental recombination between the differential segments of the X and Y chromosomes in man occasionally allows transfer of Y-linked sequences to the X chromosome leading to testis differentiation in so-called XX males. Loss of the same sequences by X-Y interchange allows female differentiation in a small proportion of individuals with XY gonadal dysgenesis. A candidate gene responsible for primary sex determination has recently been cloned from within this part of the Y chromosome by Page and his colleagues. The observation that a homologue of this gene is present on the short arm of the X chromosome and is subject to X-inactivation, raises the intriguing possibility that sex determination in man is a quantitative trait. Males have two active doses of the gonad determining gene, and females have one dose. This hypothesis has been tested in a series of XX males, XY females and XX true hermaphrodites by using a genomic probe, CMPXY1, obtained by probing a Y-specific DNA library with synthetic oligonucleotides based on the predicted amino-acid sequence of the sex-determining protein. The findings in most cases are consistent with the hypothesis of homologous gonad-determining genes, GDX and GDY , carried by the X and Y chromosomes respectively. It is postulated that in sporadic or familial XX true hermaphrodites one of the GDX loci escapes X-inactivation because of mutation or chromosomal rearrangement, resulting in mosaicism for testis and ovary-determining cell lines in somatic cells. Y-negative XX males belong to the same clinical spectrum as XX true hermaphrodites, and gonadal dysgenesis in some XY females may be due to sporadic or familial mutations of GDX .

Sign in / Sign up

Export Citation Format

Share Document