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Article

Clinical and molecular characterization of a patient with 15q21.2q22.2 deletion syndrome.

Cytogenetic and genome research - 1 Jan 2014

Velázquez-Wong Ana C, Ruiz Esparza-Garrido Ruth, Velázquez-Flores Miguel Á, Huicochea-Montiel Juan C, Cárdenas-Conejo Alan, Miguez-Muñoz Cristian P, Araujo-Solís María A, Salamanca-Gómez Fabio, Arenas-Aranda Diego J

Abstract excerpt

We report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with probable Prader-Willi syndrome. Chromosomal analysis showed a de novo deletion 46,XX,del(15)(q21q22). However, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25661042
DOI: 10.1159/000370081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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