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Article

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

American journal of medical genetics. Part A - 1 Mar 2014

Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli M A, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C

Abstract excerpt

Interstitial deletions of the long arm of chromosome 9 are rare and most patients have been detected by conventional cytogenetic techniques. Disparities in size and localization are large and no consistent region of overlap has been delineated. We report two similar de novo deletions of 6.3 Mb involving the 9q31.1q31.3 region, identified in two monozygotic twins and one unrelated patient through array-CGH...

Topics

Abnormalities, Multiple
Adult
Base Sequence
Chromosome Breakpoints
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 9
Comparative Genomic Hybridization
Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Facies

Female

Humans

Membrane Proteins

Microsatellite Repeats

Phenotype

Sequence Analysis, DNA

Syndrome

Source

Identifiers

PMID: 24376033
DOI: 10.1002/ajmg.a.36361

Provenance

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