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Array-CGH analysis allowed for delineation of the terminal deletions, which ranged in size from approximately 11.2 Mb to 28.6 Mb, with breakpoints from 5p15.2 to 5p13.An additional dup(8)(p23) (3.5 Mb), considered to be a benign copy number variation, was also observed in one patient.
Genetic background, family history, epigenetic factors, quantitative trait locus polymorphisms, and environmental factors may also affect patient phenotype and must be taken into account in genotype-phenotype correlations.
Cri-du-chat syndrome (CDCS) (OMIM123450) was first identified in 1963 when a series of three patients with deletions of the short arm of chromosome 5 was described .
The reported phenotypes included high-pitched, monotone, catlike crying during the first years of life, providing the name of the syndrome, in addition to typical facial dysmorphisms, intellectual impairment, and developmental delay.
The 5p deletions causative of this syndrome have an incidence of 1 in 50,000 live births  and may be terminal (78%), interstitial (9%), or caused by unbalanced translocations (5%) [3–5].
Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), 91501-970 Porto Alegre, RS, Brazil Received 19 January 2016; Accepted 27 March 2016Academic Editor: Sarah H.
Elsea Copyright © 2016 Layla Damasceno Espirito Santo et al.
This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5.The disease severity, levels of intellectual and developmental delay, and patient prognosis have been related to the size and position of the deletion.Aiming to establish genotype-phenotype correlations, we applied array-CGH to evaluate six patients carrying cytogenetically detected deletions of the short arm of chromosome 5 who were followed at a genetics community service.The patients’ cytogenetic and clinical profiles were reevaluated.A database review was performed to predict additional genes and regulatory elements responsible for the characteristic phenotypic and behavioral traits of this disorder.