Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/90958
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Type: Book chapter
Title: Characterization of constitutive marker chromosomes in humans
Author: Callen, D.F.
Citation: In Situ hybridization protocols, 1994 / Choo, K.H.A. (ed./s), Ch.32, pp.439-457
Publisher: Humana Press
Issue Date: 1994
Series/Report no.: Methods in Molecular Biology; 33
ISBN: 0896032809
9780896032804
Statement of
Responsibility: 
David F. Callen
Abstract: A marker chromosome is one that is morphologically different from any normal chromosome with its origin not being readily discernible by classical cytogenetic techniques. Marker chromosomes in neoplasia often represent the products of complex rearrangements and will not be discussed in this chapter. From a large series of 377,357 karyotyped amniocentesis specimens in a multicenter survey, an unbiased estimate of the frequency of de novo constitutional marker chromosomes was 1 in 2500 (1). The overall population frequency will be higher than this since markers identified as i(18p) or i(12p), and markers that were familial, were excluded. Since the proportion of familial markers is in the vicinity of 40% (2), the actual population frequency of marker chromosomes is about 1 in 1200.
Keywords: Chromosomes, Human; Ring Chromosomes; Humans; Chromosome Aberrations; Indoles; Distamycins; DNA, Satellite; Genetic Markers; Prenatal Diagnosis; Prognosis; In Situ Hybridization; Karyotyping; Cytogenetics; Pregnancy; Infant, Newborn; Female; Male
Rights: Copynght © 1994 Humana Press Inc.
RMID: 0030012436
DOI: 10.1385/0-89603-280-9:439
Appears in Collections:Medicine publications

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