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Article

Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.

American journal of medical genetics - 1 Jul 2002

Li Shulan, Malafiej Paul, Levy Brynn, Mahmood Radma, Field Michael, Hughes Thomas, Lockhart Lillian H, Wu Zhanhe, Huang Melissa, Hirschhorn Kurt, Velagaleti Golpalrao V N, Daniel Art, Warburton Peter E

Abstract excerpt

We report three new cases of chromosome 13 derived marker chromosomes, found in unrelated patients with dysmorphisms and/or developmental delay. Molecular cytogenetic analysis was performed using fluorescence in situ hybridization (FISH) with chromosome-specific painting probes, alpha satellite probes, and physically mapped probes from chromosome 13q, as well as comparative genomic hybridization (CGH). This...

Topics

Abnormalities, Multiple
Centromere
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 13
Female
Genotype
Humans
In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Karyotyping

Male

Nucleic Acid Hybridization

Phenotype

Source

Identifiers

PMID: 12116235
DOI: 10.1002/ajmg.10454

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