Application of fluorescence in situ hybridization to the identification of different marker chromosomes.

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Article

Application of fluorescence in situ hybridization to the identification of different marker chromosomes.

Annales de genetique - 1 Jan 1998

Verschraegen-Spae M R, Quack B, Rousseaux S, Pison H, Messiaen L, De Paepe A, Lespinasse J

Abstract excerpt

Chromosome studies performed on lymphocyte culture of a baby with specific dysmorphism and congenital anomalies suggestive of trisomy 21 revealed a mosaicism: 46,XY,rea(21q21q) [25]/47,XY,rea(21q21q),+mar1[25]. The karyotype of the mother is normal, but the father's karyotype presents an supernum...

Topics

Abnormalities, Multiple
Aneuploidy
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 21
Diagnosis, Differential
Down Syndrome
Female
Genotype
Heart Septal Defects, Ventricular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

In Situ Hybridization, Fluorescence

Infant, Newborn

Karyotyping

Lymphocytes

Male

Mosaicism

Source

Open in PubMed

Identifiers

PMID: 9599644

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9599644-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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