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Article

Clinical diagnosis of partial duplication 7q.

American journal of medical genetics - 1 Oct 1990

Bartsch O, Kalbe U, Ngo T K, Lettau R, Schwinger E

Abstract excerpt

We report on two sibs with partial dup (7q), a retarded 9-month-old boy and an aborted fetus of 17 weeks' gestational age. Besides minor anomalies, the boy had frontal bossing, macrocephaly with hydrocephaly, a high forehead, and a large fontanelle. GTG banded chromosomes showed a 14p+ abnormality. Because his mother carries a balanced, de novo translocation with a breakpoint in band 7q33, the boy has a...

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Share to Abnormalities, Multiple
Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 7

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

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Share to Translocation, Genetic

Source

Identifiers

PMID: 2248294
DOI: 10.1002/ajmg.1320370218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Clinical diagnosis of partial duplication 7q.PMID 2248294Read ↗

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