Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

doi:10.1002/ajmg.a.20672

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Article

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

American journal of medical genetics. Part A - 1 Jun 2004

Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna A L

Abstract excerpt

We report a 19-year-old woman with minor craniofacial anomalies, mild mental retardation, and foramina parietalia permagna (FPP) (OMIM 168500). Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. Mutation analysis of...

Topics

Abnormalities, Multiple
Adolescent
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 22
Craniofacial Abnormalities
Cytogenetic Analysis
DNA Mutational Analysis
DNA-Binding Proteins
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

In Situ Hybridization, Fluorescence

Intellectual Disability

Parietal Bone

Phenotype

Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 15108208
DOI: 10.1002/ajmg.a.20672

Genes

ALX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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