Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
Am J Med Genet A
; 170A(4): 1050-8, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-26749249
ABSTRACT
Many chromosomal rearrangements that lead to copy-number gains or losses have been shown to cause distinctive and recognizable clinical phenotypes. Conventional cytogenetic analysis can detect many, but not all, rearrangements depending on its power of resolution. The wide use of whole-genome array-based comparative genomic hybridization (array-CGH) techniques has allowed the detection of novel syndromes and to establish genotype-phenotype correlations by delineating at high resolution the regions involved in specific chromosomal aberrations. We report on a two and half-year-old female patient with intellectual disability and distinctive phenotypic features resulting from a de novo duplication of about 0.3 Mb in 21q22.3 associated with duplication of about 0.3 Mb in 12p13.33. The patient's chromosomal abnormalities were identified at the cytogenetic molecular level, using SNP array analysis, while GTG banding technique revealed a normal karyotype. Clinical findings of the patient were compared with Down syndrome and 12p duplication syndrome. This study suggests that an area of contiguous genes on the distal part of chromosome 21 (21q22.3) contribute to the Down syndrome phenotype and indicates that genes in the distal region of 12p (12p13.33) account for many facial characteristics and hypotonia of trisomy 12p syndrome.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Trissomia
/
Cromossomos Humanos Par 12
/
Cromossomos Humanos Par 21
/
Estudos de Associação Genética
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article