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Article

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Journal of medical genetics - 1 Jul 1998

Plomp A S, Engelen J J, Albrechts J C, de Die-Smulders C E, Hamers A J

Abstract excerpt

We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromosomal breakpoints more precisely. The first patient showed...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 21

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

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

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Source

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Identifiers

PMID: 9678708
DOI: 10.1136/jmg.35.7.604
PMCID: PMC1051374

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).PMID 9678708Read ↗

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