An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta

Skewed X‐chromosome inactivation (XCI) is frequently found in the diploid fetal tissues of individuals with mosaic trisomy that originated from a ‘trisomic zygote rescue’ event. This may result from a high number of trisomic cells in the embryonic cell pool at the time of XCI, which are subsequently...

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Bibliographic Details
Published in:Clinical genetics 2000-12, Vol.58 (6), p.436-446
Main Authors: Peñaherrera, Ms, Barrett, IJ, Brown, CJ, Langlois, S, Yong, S-L, Lewis, S, Bruyère, H, Howard-Peebles, PN, Kalousek, DK, Robinson, WP
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 16
confined placental mosaicism
Dosage Compensation, Genetic
Female
Fetal Diseases - genetics
Fetal Diseases - mortality
Fetal Diseases - pathology
Fetus
Humans
Infant, Newborn
Medical genetics
Medical sciences
mosaicism
Mosaicism - genetics
Placenta - pathology
Pregnancy
Trisomy
X-chromosome inactivation
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Summary:Skewed X‐chromosome inactivation (XCI) is frequently found in the diploid fetal tissues of individuals with mosaic trisomy that originated from a ‘trisomic zygote rescue’ event. This may result from a high number of trisomic cells in the embryonic cell pool at the time of XCI, which are subsequently eliminated by selection. We hypothesize that extremely skewed XCI in these mosaic cases will be associated with a poor fetal outcome due to failure to completely eliminate the trisomy from all fetal tissues. To test this hypothesis, XCI status was evaluated in 17 cases of prenatally detected trisomy 16 mosaicism. Ten of the 15 informative cases showed extreme XCI skewing (≥90% inactivation of one allele) in blood or other diploid fetal tissues compared to six of the 111 controls (p
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2000.580603.x