ArticleHuman genetics1995
Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.
Article in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 59 citations in OpenAlex.
- The dilemma of diagnostic testing for Prader-Willi syndrome.Translational pediatrics · 2017Review
- Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Human mutation · 2010Article
- Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.Journal of medical genetics · 1997Article
- A 3 1/2 year old girl with distal trisomy 19q defined by FISH.Journal of medical genetics · 1996Article
- Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.Journal of medical genetics · 1996Review
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3 authors at 2 institutions in 2 countries.
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Abstract
Two patients with classical features of Angel-man syndrome (AS) and one with Prader-Willi syndrome (PWS) had unbalanced reciprocal translocations involving the chromosome 15 proximal long arm and the telomeric region of chromosomes 7, 8 and 10. Fluorescence in situ hybridization (FISH) was used for the detection of chromosome 15(q11-13) deletions (with probes from the PWS/AS region) and to define the involvement of the telomere in the derivative chromosomes (with library probes and telomere-specific probes). The 15(q11-13) region was not deleted in one patient but was deleted in the other two. The telomere on the derivative chromosomes 7, 8 and 10 was deleted in all three cases. Thus, these are true reciprocal translocations in which there has been loss of the small satellited reciprocal chromosome (15) fragment.
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