Fluorescent in situ hybridization: use of whole chromosome paint probes to identify unbalanced chromosome translocations.

Abstract:

:By identifying structural chromosome anomalies, the clinical cytogenetics laboratory can play a critical role in the diagnosis and treatment of patients with birth defects. Although many new staining techniques have been developed throughout the years to aid in the detection of anomalous chromosomes, some abnormalities still pose a special challenge to cytogeneticists. This difficulty is especially evident in patients with an abnormal chromosome that does not produce a recognizable banding pattern by conventional staining techniques. We describe a recently discovered method of identifying chromosomes by using whole chromosome-specific DNA probes and fluorescent in situ hybridization and provide examples of how this new procedure facilitated the identification of chromosome abnormalities in two patients with multiple birth defects.

journal_name

Mayo Clin Proc

journal_title

Mayo Clinic proceedings

authors

Kraker WJ,Borell TJ,Schad CR,Pennington MJ,Karnes PS,Dewald GW,Jenkins RB

doi

10.1016/s0025-6196(12)60721-6

keywords:

subject

Has Abstract

pub_date

1992-07-01 00:00:00

pages

658-62

issue

7

eissn

0025-6196

issn

1942-5546

pii

S0025-6196(12)60721-6

journal_volume

67

pub_type

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