[Identification of a cryptic 1p36.3 microdeletion in a patient with Prader-Willi-like syndrome features]
Fang Xu1, De-hua Cheng, Yu-fen Di
1Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan, P.R. China.
Objective:
To determine the karyotype of a patient with Prader-Willi-like syndrome features.
Methods:
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.
Results:
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.
Conclusion:
Molecular cytogenetic techniques should be performed to those patients with Prader-Willi-like syndrome features, to determine their karyotypes.
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