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Article

A novel microdeletion/microduplication syndrome of 19p13.13.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2010

Dolan Michelle, Mendelsohn Nancy J, Pierpont Mary Ella, Schimmenti Lisa A, Berry Susan A, Hirsch Betsy

Abstract excerpt

PURPOSE: Whole genome interrogation by array-based comparative genomic hybridization has led to a rapidly increasing number of discoveries of novel microdeletion and/or microduplication syndromes. We here describe the clinical and cytogenomic correlates of a novel microdeletion/microduplication of 19p13.13. METHODS: Among patients referred to the Cytogenetics laboratory for array-based comparative genomic...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 19

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 20613546
DOI: 10.1097/GIM.0b013e3181e59291

Genes

CALR
MAST1
NFIX

Provenance

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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