Identification of a cryptic 1p36.3 microdeletion in a patient with Prader-Willi-like syndrome features / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 524-529, 2010.
Article
Dans Chinois
| WPRIM
| ID: wpr-234368
ABSTRACT
<p><b>OBJECTIVE</b>To determine the karyotype of a patient with Prader-Willi-like syndrome features.</p><p><b>METHODS</b>Chromosomal high resolution banding was carried out to analyze the karyotype of the patient, and methylation-specific PCR was used to analyze the imprinting region of chromosome 15. Subtelomeric region was screened by multiplex ligation-dependent probe amplification (MLPA), and fluorescent in situ hybridization (FISH) and real-time quantitative PCR were further performed to identify the deleted region.</p><p><b>RESULTS</b>No abnormality was discovered by high resolution karyotype analysis and methylation-specific PCR studies. MLPA analysis showed that the patient had a deletion of 1p subtelomeric area, which was confirmed by FISH analysis. The deleted region was shown within a 4.2 Mb in the distal 1p by 3 BAC FISH probes of 1p36 combined with real-time PCR technique. Family pedigree investigation showed the chromosome abnormality was de novo. Therefore, partial monosomy 1p36 was likely responsible for the mental retardation of the patient.</p><p><b>CONCLUSION</b>Molecular cytogenetic techniques should be performed to those patients with Prader-Willi-like syndrome features, to determine their karyotypes.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Syndrome de Prader-Willi
/
Chromosomes humains de la paire 1
/
Délétion de segment de chromosome
/
Génétique
/
Caryotypage
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2010
Type:
Article
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