Severe phenotypes associated with inactive ring X chromosomes

Barbara R. Migeon, Margareet Ausems, Jacques Giltay, Camille Hasley-Royster, Ethan Kazi, Thomas J. Lydon, John J.M. Engelen, Gerald Raymond

Research output: Contribution to journalArticle

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Abstract

Mental retardation and congenital malformations in individuals with small ring X chromosomes are often due to the functional disomy that results from failure of these chromosomes to undergo X inactivation. Such chromosomes either lack the XIST locus or do not express it. We have carried out genetic analysis of the ring X chromosomes from two girls with a 45,X/46,X,r(X) karyotype, mental retardation, and a constellation of abnormalities characteristic of the severe phenotype due to X disomy. In each case the ring X chromosome included an intact XIST locus which was expressed; the breakpoints were distal to DXS128, and therefore outside the XIC region; transcription analysis of alleles at the androgen receptor locus confirmed that these were inactive chromosomes. The characteristics of the XIST RNA were similar to the wild-type. Additional studies in cultured fibroblasts showed a second ring in a small percentage of the cells. The association of severe phenotype with an inactive X chromosome most likely reflects the presence of a second ring X chromosome which was active at least in some tissues during embryogenesis, but is no longer prominent in the tissues we analyzed.

Original languageEnglish (US)
Pages (from-to)52-57
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume93
Issue number1
DOIs
StatePublished - Jul 3 2000

Fingerprint

Ring Chromosomes
X Chromosome
Phenotype
Chromosomes
Intellectual Disability
X Chromosome Inactivation
Androgen Receptors
Karyotype
Embryonic Development
Fibroblasts
Alleles
RNA

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Migeon, Barbara R. ; Ausems, Margareet ; Giltay, Jacques ; Hasley-Royster, Camille ; Kazi, Ethan ; Lydon, Thomas J. ; Engelen, John J.M. ; Raymond, Gerald. / Severe phenotypes associated with inactive ring X chromosomes. In: American Journal of Medical Genetics. 2000 ; Vol. 93, No. 1. pp. 52-57.
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Migeon, BR, Ausems, M, Giltay, J, Hasley-Royster, C, Kazi, E, Lydon, TJ, Engelen, JJM & Raymond, G 2000, 'Severe phenotypes associated with inactive ring X chromosomes', American Journal of Medical Genetics, vol. 93, no. 1, pp. 52-57. https://doi.org/10.1002/1096-8628(20000703)93:1<52::AID-AJMG9>3.0.CO;2-9

Severe phenotypes associated with inactive ring X chromosomes. / Migeon, Barbara R.; Ausems, Margareet; Giltay, Jacques; Hasley-Royster, Camille; Kazi, Ethan; Lydon, Thomas J.; Engelen, John J.M.; Raymond, Gerald.

In: American Journal of Medical Genetics, Vol. 93, No. 1, 03.07.2000, p. 52-57.

Research output: Contribution to journalArticle

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AU - Engelen, John J.M.

AU - Raymond, Gerald

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