Monosomy 9p24 in two non-related patients as result of a translocation (2;9).

doi:10.5546/aap.2018.e603

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Article

Monosomy 9p24 in two non-related patients as result of a translocation (2;9).

Archivos argentinos de pediatria - 1 Aug 2018

León-Carlos Nayla Y, García-Delgado Constanza, Morales-Jiménez Ariadna B, Serrano-Bello Carlos, Cervantes Alicia, Morán Barroso Verónica F

Abstract excerpt

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...

Topics

Child, Preschool
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 9
Female
Genotype
Humans
Infant, Newborn
Karyotyping
Phenotype
Translocation, Genetic

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Open in PubMed

Identifiers

PMID: 30016040
DOI: 10.5546/aap.2018.e603

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