@article {8293,
	title = {The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.},
	journal = {Andrology},
	volume = {4},
	year = {2016},
	month = {2016 Mar},
	pages = {328-34},
	abstract = {<p>The Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder in males, characterized by at least one supernumerary X chromosome (most frequent karyotype 47,XXY). This syndrome presents with a broad range of phenotypes. The common characteristics include small testes and infertility, but KS subjects are at increased risk of hypogonadism, cognitive dysfunction, obesity, diabetes, metabolic syndrome, osteoporosis, and autoimmune disorders, which are present in variable proportion. Although part of the clinical variability might be linked to a different degree of testicular function observed in KS patients, genetic mechanisms of the supernumerary X chromosome might contribute. Gene-dosage effects and parental origin of the supernumerary X chromosome have been suggested to this regard. No study has been performed analyzing the genetic constitution of the X chromosome in terms of copy number variations (CNVs) and their possible involvement in phenotype of KS. To this aim, we performed a SNP arrays analysis on 94 KS and 85 controls. We found that KS subjects have more frequently than controls X-linked CNVs (39/94, [41.5\%] with respect to 12/42, [28.6\%] of females, and 8/43, [18.6\%] of males, p < 0.01). The number of X-linked CNVs in KS patients was 4.58 {\textpm} 1.92 CNVs/subject, significantly higher with respect to that found in control females (1.50 {\textpm} 1.29 CNVs/subject) and males (1.14 {\textpm} 0.37 CNVs/subject). Importantly, 94.4\% X-linked CNVs in KS subjects were duplications, higher with respect to control males (50.0\%, p < 0.001) and females (83.3\%, p = 0.1). Half of the X-linked CNVs fell within regions encompassing genes and most of them (90\%) included genes escaping X-inactivation in the regions of X-Y homology, particularly in the pseudoautosomal region 1 (PAR1) and Xq21.31. This study described for the first time the genetic properties of the X chromosome in KS and suggests that X-linked CNVs (especially duplications) might contribute to the clinical phenotype.</p>},
	issn = {2047-2927},
	doi = {10.1111/andr.12146},
	author = {Rocca, M S and Pecile, V and Cleva, L and Speltra, E and Selice, R and Di Mambro, A and Foresta, C and Ferlin, A}
}
@article {1804,
	title = {De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.},
	journal = {Eur J Med Genet},
	volume = {55},
	year = {2012},
	month = {2012 Feb},
	pages = {117-9},
	abstract = {<p>Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not yet defined. In this report, we describe a 7 years old male with mental retardation, cryptorchid testes, short stature and alopecia carrying only an interstitial de novo deletion of 911 Kb in the 1q43 region (239,597,095-240,508,817) encompassing three genes CHRM3, RPS7P5 and FMN2.</p>},
	keywords = {Child, Chromosomes, Human, Pair 1, Dwarfism, Humans, Intellectual Disability, Male, Sequence Deletion},
	issn = {1878-0849},
	doi = {10.1016/j.ejmg.2011.11.004},
	author = {Perrone, M D and Rocca, M S and Bruno, I and Faletra, F and Pecile, V and Gasparini, P}
}
