Duplication/deletion of chromosome 8p

Journal Article · Mon Sep 11 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580308· OSTI ID:450741

Priest, J H ^[1]

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1. Shodair Hospital Dept. of Medical Genetics, Helena, MT (United States)

The article by Guo et al. provides evidence for deletion of D8S596 loci (assigned to 8p23) in at least some patients with inverted duplications of 8p. Cytogenetic break points forming the inverted duplication are remarkably similar among most of their patients and those reported previously, suggesting a common mechanism for this interesting rearrangement. Why should similar breaks occur in 8p and why is a FISH signal absent in the distal short arm when the ONCOR digoxigenin-labeled probe for loci D8S596 is used? Other studies also indicate that duplication for the region 8p12-p22 is associated with a deletion distal to the duplication itself. 4 refs.

• Sponsoring Organization: USDOE
• OSTI ID: 450741
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
CROSSING-OVER
DICENTRIC CHROMOSOMES
DNA HYBRIDIZATION
FLUORESCENCE
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
KARYOTYPE
MEIOSIS
MENTAL DISORDERS
MOSAICISM
PATIENTS
PROBES
SOMATIC MUTATIONS