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Article

Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.

American journal of medical genetics. Part A - 1 Jul 2010

Semerci C Nur, Cinbis Mine, Ullmann Reinhard, Steininger Anne, Bahce Muhterem, Yagci Baki, Ozden Serap, Sabir Nuran, Gumus Dilihan, Tepeli Emre, Arteaga Jazmín, Mutchinick Osvaldo M

Abstract excerpt

We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly,...

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Share to Chromosomes, Human, Pair 12
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20578131
DOI: 10.1002/ajmg.a.33383

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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