Identification of a cryptic 1p36.3 microdeletion in a patient with Prader-Willi-like syndrome features.
- VernacularTitle:一例类似Prader-Willi综合征表型患者的染色体1p36.3隐匿缺失检测
- Author:
Fang XU
1
;
De-hua CHENG
;
Yu-fen DI
;
Ke TAN
;
Lu-yun LI
;
Guang-xiu LU
;
Yue-qiu TAN
Author Information
- Publication Type:Case Reports
- MeSH: Child; Chromosome Deletion; Chromosomes, Human, Pair 1; genetics; Female; Humans; Karyotyping; Prader-Willi Syndrome; genetics
- From: Chinese Journal of Medical Genetics 2010;27(5):524-529
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the karyotype of a patient with Prader-Willi-like syndrome features.
METHODSChromosomal 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.
RESULTSNo 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.
CONCLUSIONMolecular cytogenetic techniques should be performed to those patients with Prader-Willi-like syndrome features, to determine their karyotypes.
