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Archivos argentinos de pediatría

Print version ISSN 0325-0075


VILLARROEL, Camilo E et al. First two Mexican cases of monosomy 1p36: possible diagnosis in patients with mental retardation and dysmorphism. Arch. argent. pediatr. [online]. 2011, vol.109, n.3, pp.e55-e58. ISSN 0325-0075.

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 malformations, such as congenital heart disease, and a characteristic facial phenotype. This report describes the clinical and cytogenetic findings from the frst two cases diagnosed in Mexico, confirmed by fluorescence in situ hybridization test, and compares them to those described in the literature. The probable subdiagnosis of this entity, the importance of improves its recognition and the useful data for the clinical suspicion are also discussed.

Keywords : Congenital malformations; Facial dysmorphism; Fluorescence in situ hybridization test; Mental retardation; Monosomy 1p36.

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