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Article

Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.

American journal of medical genetics. Part A - 1 May 2008

Gamerdinger Ulrike, Eggermann Thomas, Schubert Regine, Schwanitz Gesa, Kreiss-Nachtsheim Martina

Abstract excerpt

The female carrier of a de novo interstitial deletion 9q [karyotype 46,XX,del(9)(q31.2q33.1)] was followed up over a period of more than 20 years. She shows facial dysmorphisms and significant growth retardation. Motor abilities are restricted by muscular hypotonia and malposition of the feet. She has mental retardation. There was no speech development and phases of autism were reported. By analyses with FISH and...

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Source

Identifiers

PMID: 18386807
DOI: 10.1002/ajmg.a.32122

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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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