Molecular characterization of isochromosomes of Xq

We have undertaken a study of 35 patients with i(Xq) to determine whether those that are maternally derived originate by similar mechanisms to those that are paternally derived. Isochromosome formation is not associated with increased parental age and >90% of i(Xq) contain proximal Xp sequences s...

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Bibliographic Details
Published inAnnals of human genetics Vol. 61; no. 6; pp. 485 - 490
Main Authors JAMES, R. S., DALTON, P., GUSTASHAW, K., WOLFF, D. J., WILLARD, H. F., MITCHELL, C., JACOBS, P. A.
Format Journal Article Conference Proceeding
LanguageEnglish
Published Cambridge Cambridge University Press 01.11.1997
Subjects
Adult
Biological and medical sciences
Chromosome aberrations
Female
Humans
Isochromosomes
Karyotyping
Male
Medical genetics
Medical sciences
Middle Aged
Turner Syndrome - genetics
X Chromosome
Chromosomal aberration
Human
Long arm
Abnormal X chromosome
Pathogenesis
Abnormal chromosome
Female
Parental origin
Genetic determinism
Isochromosome
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Summary:We have undertaken a study of 35 patients with i(Xq) to determine whether those that are maternally derived originate by similar mechanisms to those that are paternally derived. Isochromosome formation is not associated with increased parental age and >90% of i(Xq) contain proximal Xp sequences suggesting that centromere misdivision is not a common mechanism of formation. Our results indicate that the majority of i(Xq) originate from a single X chromosome and the usual mechanisms of formation do not appear to differ according to the parent of origin.
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ISSN:0003-4800
1469-1809
DOI:10.1017/S0003480097006519