Abstract |
A Prader-Willi syndrome patient is described who has a de novo balanced translocation, (4;15)(q27;q11.2)pat, with breakpoints lying between SNRPN exons 2 and 3. Parental-origin studies indicate that there is no uniparental disomy and no apparent deletion. This patient expresses ZNF127, SNRPN exons 1 and 2, IPW, and D15S227E (PAR1) but does not express either SNRPN exons 3 and 4 or D15S226E (PAR5), as assayed by reverse transcription-PCR, of peripheral blood cells. Methylation studies showed normal biparental patterns of inheritance of loci DN34/ZNF127, D15S63, and SNRPN exon 1. Results for this patient and that reported by Sun et al. support the contention that an intact genomic region and/or transcription of SNRPN exons 2 and 3 play a pivotal role in the manifestations of the major clinical phenotype in Prader-Willi syndrome.
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Authors | C D Kuslich, J A Kobori, G Mohapatra, C Gregorio-King, T A Donlon |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 64
Issue 1
Pg. 70-6
(Jan 1999)
ISSN: 0002-9297 [Print] United States |
PMID | 9915945
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Autoantigens
- Ribonucleoproteins, Small Nuclear
- SNRPN protein, human
- snRNP Core Proteins
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Topics |
- Autoantigens
(genetics)
- Black People
(genetics)
- Blotting, Southern
- Chromosome Banding
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 4
- Exons
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Polymerase Chain Reaction
- Prader-Willi Syndrome
(genetics)
- Ribonucleoproteins, Small Nuclear
(genetics)
- Translocation, Genetic
- snRNP Core Proteins
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