Article
[First two Mexican cases of monosomy 1p36: possible diagnosis in patients with mental retardation and dysmorphism].
Archivos argentinos de pediatria - 1 Jun 2011
Villarroel Camilo E, Álvarez Rosa M, Gómez-Laguna Laura, Ramos Sandra, González-Del Ángel Ariadna
Abstract excerpt
It is calculated that distal deletion of the short arm of chromosome 1 occurs in one out of every 5000 live births and causes approximately 1.2% of cases of mental retardation of unknown origin. This alteration usually cannot be detected in the standard karyotype, requiring molecular cytogenetic techniques for the diagnosis. In addition to the neurological manifestations, it may cause internal organs...
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