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Bijlsma E.K.,Leiden University | Collins A.,Wessex Clinical Genetics Service | Papa F.T.,University of Siena | Tejada M.I.,Molecular Genetics Laboratory | And 26 more authors.
European Journal of Medical Genetics | Year: 2012

Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech.Female patients with Xq duplications including MECP2 are rare. Only recently submicroscopic duplications of this region on Xq28 have been recognized in four females, and a triplication in a fifth, all in combination with random X-chromosome inactivation (XCI). Based on this small series, it was concluded that in females with MECP2 duplication and random XCI, the typical symptoms of affected boys are not present. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males. © 2012 Elsevier Masson SAS.

Valetto A.,Cytogenetics and Molecular Genetic Unit | Orsini A.,Neurological Section | Bertini V.,Cytogenetics and Molecular Genetic Unit | Toschi B.,Cytogenetics and Molecular Genetic Unit | And 6 more authors.
European Journal of Medical Genetics | Year: 2012

We report on a . de novo interstitial deletion of chromosome 21q in a patient presenting with characteristic facial features, intellectual disability, and epilepsy. The deletion extent was about 4.9 Mb from position 37713441 bp (21q22.13) to position 42665162 bp (21q22.3) (NCBI36/hg18 map).Patients with partial monosomy 21 are quite rare; this anomaly has been associated with a wide spectrum of clinical signs, ranging from very mild to quite severe phenotypes. This variability results from variability in the deleted regions, thus accurate molecular definition of the chromosomal breakpoints is necessary to make better genotype-phenotype correlations.We compared our patient's phenotype with the few other patients reported in the literature and found to have similar deletion when analyzed by array CGH. The minimal overlapping region contains only two genes, . DYRK1A and . KCNJ6, which may play a major role in these patients' phenotype. © 2012 Elsevier Masson SAS.

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