Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

doi:10.1007/BF02281862

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Article

Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

Human genetics - 1 May 1996

Eggermann T, Engels H, Moskalonek B, Nöthen M M, Müller-Navia J, Schleiermacher E, Schwanitz G, Stengel-Rutkowski S

Abstract excerpt

We report a de novo supernumerary isochromosome 18p in a child with tetrasomy 18p, analyzed by a straightforward combination of cytogenetic and molecular cytogenetic methods. The diagnostic procedure consisted of standard banding techniques and fluorescence in situ hybridization (FISH) with centr...

Topics

Alleles
Aneuploidy
Centromere
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 18
DNA Probes
Fathers
Female
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Mothers
Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 8655132
DOI: 10.1007/BF02281862

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8655132-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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