Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

1997 ◽  
Vol 100 (2) ◽  
pp. 256-262 ◽  
Author(s):  
D. J. Wolff ◽  
Karen M. Gustashaw ◽  
Vickie Zurcher ◽  
Lara Ko ◽  
Wendy White ◽  
...  
Keyword(s):  
X Inactivation ◽  
Severe Phenotype ◽  
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

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation

2014 ◽  
Vol 164 (10) ◽  
pp. 2521-2528 ◽  
Author(s):  
KS Yeung ◽  
YY Chee ◽  
HM Luk ◽  
Anita SY Kan ◽  
Mary HY Tang ◽  
...  
Keyword(s):  
X Inactivation ◽  
Chromosome 15 ◽  
Severe Phenotype

scholarly journals Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

2021 ◽  
Vol 12 ◽  
Author(s):  
Luciane Simonetti ◽  
Lucas G. A. Ferreira ◽  
Angela Cristina Vidi ◽  
Janaina Sena de Souza ◽  
Ilda S. Kunii ◽  
...  
Keyword(s):  
Gene Expression ◽  
X Chromosome ◽  
Intelligence Quotient ◽  
Klinefelter Syndrome ◽  
X Chromosome Inactivation ◽  
X Inactivation ◽  
Chromosome Inactivation ◽  
Neurocognitive Dysfunction ◽  
Inactivation Pattern ◽  
Iq Scores

Klinefelter syndrome (KS) displays a broad dysmorphological, endocrinological, and neuropsychological clinical spectrum. We hypothesized that the neurocognitive dysfunction present in KS relies on an imbalance in X-chromosome gene expression. Thus, the X-chromosome inactivation (XCI) pattern and neurocognitive X-linked gene expression were tested and correlated with intelligence quotient (IQ) scores. We evaluated 11 KS patients by (a) IQ assessment, (b) analyzing the XCI patterns using both HUMARA and ZDHHC15 gene assays, and (c) blood RT-qPCR to investigate seven X-linked genes related to neurocognitive development (GTPBP6, EIF2S3, ITM2A, HUWE1, KDM5C, GDI1, and VAMP7) and XIST in comparison with 14 (male and female) controls. Considering IQ 80 as the standard minimum reference, we verified that the variability in IQ scores in KS patients seemed to be associated with the XCI pattern. Seven individuals in the KS group presented a random X-inactivation (RXI) and lower average IQ than the four individuals who presented a skewed X-inactivation (SXI) pattern. The evaluation of gene expression showed higher GTPBP6 expression in KS patients with RXI than in controls (p = 0.0059). Interestingly, the expression of GTPBP6 in KS patients with SXI did not differ from that observed in controls. Therefore, our data suggest for the first time that GTPBP6 expression is negatively associated with full-scale IQ under the regulation of the type of XCI pattern. The SXI pattern may regulate GTPBP6 expression, thereby dampening the impairment in cognitive performance and playing a role in intelligence variability in individuals with KS, which warrants further mechanistic investigations.

X-inactivation pattern in the epididymis of sex-reversed mice heterozygous for testicular feminization

Development ◽  
1974 ◽  
Vol 32 (1) ◽  
pp. 217-225
Author(s):  
Ulrich Drews ◽  
Valentin Alonso-Lozano
Keyword(s):  
X Chromosome ◽  
Sex Reversal ◽  
Cellular Level ◽  
X Inactivation ◽  
Testicular Feminization ◽  
Wild Type ◽  
Female Mice ◽  
Inactivation Pattern ◽  
Ultrastructural Appearance ◽  
Male Sex

Female mice heterozygous for testicular feminization were sex-reversed by means of the autosomal sex reversal mutation (Sxr). Due to X-inactivation, the blastemata for male sex organs in these animals are composed of a mixture of cells, carrying either the wildtype X chromosome or the X chromosome affected with Tfm in an active state. Thus, the two types of cells are sensitive to androgens or insensitive to androgens, respectively. This mosaic could be demonstrated in the epididymis on a cellular level. Segments of undifferentiated Tfm cells were found alternating with normally differentiated wild-type cells. The ultrastructural appearance of the mosaic is described.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

2017 ◽  
Vol 173 (5) ◽  
pp. 1334-1341 ◽  
Author(s):  
Anna Podolska ◽  
Albrecht Kobelt ◽  
Sigrid Fuchs ◽  
Karl Hackmann ◽  
Andreas Rump ◽  
...  
Keyword(s):  
X Inactivation ◽  
Inactivation Pattern

X inactivation pattern in interstitial deletions of the fragile X region

1994 ◽  
Vol 51 (4) ◽  
pp. 451-451 ◽  
Author(s):  
Malgorzata Schmidt ◽  
Anne Robertson ◽  
Marjorie Crawford
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Inactivation Pattern
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