Abstract

LEON-CARLOS, Nayla Y et al. Monosomy 9p24 in two non-related patients as result of a translocation (2;9). Arch. argent. pediatr. [online]. 2018, vol.116, n.4, pp.e603-e608. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2018.e603.

In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have normal phenotype, but they may have infertility, abortions or children with congenital malformations. The reciprocal translocation between chromosomes 2 and 9 can lead to offspring with monosomies and trisomies of these chromosomes. Short arm monosomy of chromosome 9 may present delayed psychomotor development, trigonocephaly, facial dysmorphia and genital abnormalities. We reviewed GTG karyotype records from our Institution to identify cases with chromosomes 2 and/or 9 alterations from 2005 to 2014. We describe two cases with monosomy 9p secondary to a translocation between chromosomes 2 and 9. The patients share features of monosomy 9p24-pter, however the genotype-phenotype correlation is complex due to the extension of the involved segments. We emphasize the importance of chromosomal diagnosis to offer genetic assessment.

Keywords : Monosomy 9p; Translocation (2;9); Trisomy 2q; Congenital abnormalities; Chromosome banding.

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