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Article

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

American journal of medical genetics. Supplement - 1 Jan 1990

Petersen M B, Tranebjaerg L, McCormick M K, Michelsen N, Mikkelsen M, Antonarakis S E

Abstract excerpt

We present 2 patients with dup(21q). Patient MP01 had mild mental retardation, facial findings characteristic of Down syndrome (DS), and a terminal duplication of chromosome 21. His karyotype was 46,XY,dup(21) (q22.1-qter). Patient MP03 had mild mental retardation, minor anomalies not characteristic of DS, and a duplication of the proximal long arm of chromosome 21, karyotype 46,XX,dup(21) (q11.2-q21.2). The...

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Identifiers

PMID: 2149934
DOI: 10.1002/ajmg.1320370721

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Source receipt: pubmed, retrieved 7 Sept 2026.

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