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Clinical features in a pediatric population due to chromosome deletions at a third level pediatric Mexican hospital in 19 years period of time: Five case reports
Author(s) -
Jonathan Javier Mucherino Muñoz
Publication year - 2013
Publication title -
international journal of genetics and molecular biology
Language(s) - English
Resource type - Journals
ISSN - 2006-9863
DOI - 10.5897/ijgmb2012.0063
Subject(s) - karyotype , chromosome , genetics , biology , medicine , pediatrics , gene
Chromosome aberrations are considered as alterations in the chromosome number or structure. They are mainly due to gametogenesis inborn error (meiosis) or occur during the zygote first cellular divisions where DNA repair processes are deficient.  Two Wolf Syndrome patients and two criduchat patients or patients with deletion of the short arm of chromosome 4 and 5, respectively, and deletion of chromosome 9 in one patient, were observed among 4617 karyotype studies performed from 1992 to 2011, at the Hospital Para El Nino Poblano (Pediatric Hospital) in Mexico. These chromosome structural alterations or deletions at chromosomes 4, 5 and 9, observed among five patients from three different families were chosen to analyze their clinical characteristics, medical or surgical treatments and their medical evolution according to the genetic disease.   Key words: Chromosome, deletion, chromosome aberration, structural changes, karyotype.

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