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Article

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.

American journal of medical genetics. Part A - 1 Mar 2006

Stankiewicz Paweł, Kuechler Alma, Eller C Daniel, Sahoo Trilochan, Baldermann Christiane, Lieser Ulla, Hesse Martin, Gläser Christiane, Hagemann Monika, Yatsenko Svetlana A, Liehr Thomas, Horsthemke Bernhard, Claussen Uwe, Marahrens York, Lupski James R, Hansmann Ingo

Abstract excerpt

Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3-year-old dizygotic female twin with prenatally ascertained increased nuchal translucency. Prenatal chromosome studies revealed nearly complete trisomy 15 due to a de novo unbalanced translocation t(X;15)(q22;q11.2) confirmed postnatally. A mild phenotype was observed...

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Source

Identifiers

PMID: 16470732
DOI: 10.1002/ajmg.a.31096

Genes

SNRPN
FMR1

Provenance

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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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.PMID 16470732Read ↗

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