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Article

Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.

American journal of human genetics - 1 Aug 1996

White L M, Rogan P K, Nicholls R D, Wu B L, Korf B, Knoll J H

Abstract excerpt

Allele-specific replication differences have been observed in imprinted chromosomal regions. We have exploited this characteristic of an imprinted region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples with uniparental disomy of chromosome 15q11-q13 (n = 11) from those with biparental inheritance...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

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Source

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Identifiers

PMID: 8755930
PMCID: PMC1914739

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.PMID 8755930Read ↗

Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.Semantic proximity Read ↗

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.Semantic proximity Read ↗

Uniparental paternal disomy in Angelman's syndrome.Semantic proximity Read ↗

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.Semantic proximity Read ↗

Imprinting-mutation mechanisms in Prader-Willi syndrome.Semantic proximity Read ↗

Relaxation of imprinting in Prader-Willi syndrome.Semantic proximity Read ↗

In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.Semantic proximity Read ↗

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.Semantic proximity Read ↗

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.Semantic proximity Read ↗

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.Semantic proximity Read ↗

Allele-specific replication associated with aneuploidy in blood cells of patients with hematologic malignancies.Semantic proximity Read ↗

Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome.Semantic proximity Read ↗

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