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Article

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.

American journal of medical genetics. Part A - 30 Apr 2003

Batstone Paul J, Simpson Sheila, Bonthron David T, Keng Wee T, Hamilton Doreen, Forsyth Linda, Sales Mark, Pratt Norman, Goudie David

Abstract excerpt

We report a seven generation family in which a 2;11 chromosome translocation is segregating. Both unbalanced segregants have been found in the family, and cytogenetic analysis demonstrates that this results in effective monosomy or trisomy for chromosome band 2q37.3. Those family members who are monosomic exhibit a variable phenotype with a number of features associated with an Albright's Hereditary...

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Identifiers

PMID: 12673654
DOI: 10.1002/ajmg.a.10204

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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.

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