Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Texas Southwestern Medical Center, Dallas, TX (United States); and others
A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15q11q13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms of the Robertsonian chromosome. Inheritance of alleles from 13 highly polymorphic DNA markers on chromosome 15 showed paternal uniparental isodisomy. The clinical, cytogenetic, and molecular results are consistent with a diagnosis of Angelman syndrome. 8 refs., 3 figs.
- OSTI ID:
- 478536
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 66; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)
Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?
Journal Article
·
Sun May 15 00:00:00 EDT 1994
· American Journal of Medical Genetics
·
OSTI ID:56825
Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133771
Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?
Journal Article
·
Sun Mar 31 23:00:00 EST 1996
· American Journal of Human Genetics
·
OSTI ID:285060