We present a prenatal diagnosis of a de novo homologous Robertsonian translocation involving both chromosomes 15. Amniocentesis was performed on a 36-year-old woman at 16.5 weeks of gestation. Chromosome analysis documented a 45,XX,der(15;15) (q10;q10) chromosome pattern. No evidence of a deletion w
Exclusion of uniparental inheritance of chromosome 15 in a fetus with a familial dicentric (Y;15) translocation
β Scribed by L. M. White; K. Treat; A. Leff; D. Styers; M. Mitchell; J. H. M. Knoll
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 171 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
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β¦ Synopsis
We present a prenatal case with a 45,X,dic(Y;15) (q11.23;p11.1) karyotype and describe the inheritance pattern of the chromosome 15s. Chromosome 15 has an imprinted region and inheritance of both chromosome 15 from one parent results in either Angelman syndrome (AS) (paternal inheritance) or Prader Willi syndrome (PWS) (maternal inheritance). Parental chromosome studies revealed that the father carried the same dicentric (Y;15) translocation. Since familial chromosome rearrangements can result in aberrant chromosomal segregation during meiosis, we wanted to exclude paternal uniparental inheritance of chromosome 15. By using DNA microsatellite markers at several 15q11q13 loci, we determined that the fetus had inherited his normal non-translocated chromosome 15 from his mother.
π SIMILAR VOLUMES
We have used Y-specific and Y-derived DNA probes for in situ hybridization and Southern blotting analysis to characterize a Y;15 translocation showing normal Mendelian inheritance in a family. Cytogenetically there appeared to be an unbalanced translocation of Yqh to 15p; this translocation may be c
A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15qllq13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms o
## Abstract Angelman and PraderβWilli syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11βq13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either synd