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Article

Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review.

Journal of medical genetics - 1 Jul 2000

Heller A, Seidel J, Hübler A, Starke H, Beensen V, Senger G, Rocchi M, Wirth J, Chudoba I, Claussen U, Liehr T

Abstract excerpt

Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detected partial trisomy 9q. This partial trisomy 9q has been analysed in detail to determine the size of the duplication...

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Topics

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Share to Chromosome Banding
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

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Share to Physical Chromosome Mapping

Share to Prenatal Diagnosis

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Source

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Identifiers

PMID: 10882757
DOI: 10.1136/jmg.37.7.529
PMCID: PMC1734635

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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