Unbalanced translocation t (5;15) in a patient with Prader-Willi syndrome.
- Author:
Jin-li BAI
1
;
Hong WANG
;
Yan-ling YANG
;
Fang SONG
Author Information
- Publication Type:Case Reports
- MeSH: Chromosomes, Human, Pair 15; genetics; Chromosomes, Human, Pair 5; genetics; DNA Methylation; Female; Genetic Linkage; Humans; Infant; Karyotyping; Male; Microsatellite Repeats; genetics; Polymerase Chain Reaction; Prader-Willi Syndrome; diagnosis; genetics; pathology; physiopathology; Translocation, Genetic; genetics
- From: Chinese Journal of Medical Genetics 2010;27(6):664-667
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo diagnose and detect the molecular defect in a suspected patient with Prader-Willi syndrome.
METHODSGenetic diagnosis and molecular genetic analysis were performed by using chromosome karyotype analysis, methylation-specific PCR (MS-PCR), and linkage analysis using short tandem repeat (STR).
RESULTSThe karyotype of the patient was 45, XX, der(5), t(5;15)(q35;q13), -15, and the parents were 46, XY and 46, XX, respectively, implying that the unbalanced translocation t(5;15) in the patient was de novo. Furthermore, MS-PCR and STR linkage analysis confirmed that the patient's 15q11-13 deletion was resulted from unbalanced translocation on paternal chromosome 15.
CONCLUSIONGenetic analysis should be applied in suspected patients with Prader-Willi syndrome to confirm the diagnosis. Cytogenetic and molecular techniques would be helpful in clinical diagnosis, genetic counseling and prenatal diagnosis.
