Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patien...

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Veröffentlicht in:Human genetics 1993-07, Vol.91 (6), p.589-598
Hauptverfasser: PLATTNER, R, HEEREMA, N. A, HOWARD-PEEBLES, P. N, MILES, J. H, SOUKUP, S, PALMER, C. G
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Biological and medical sciences
Child, Preschool
Chromosome Aberrations
clinical aspects
Congenital Abnormalities - genetics
DNA Probes
DNA, Satellite
Female
fluorescence in situ hybridization
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
man
marker chromosomes
Medical genetics
Medical sciences
Pregnancy
Prenatal Diagnosis
Ring Chromosomes
Risk
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Beschreibung
Zusammenfassung:Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patients with marker chromosomes similarly identified and reported in the literature.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00205086