Molecular characterization of 21p- variant chromosome

Fortuitously, within a 1-month period, we were referred two individuals for routine cytogenetic amniocenteses involving one chromosome 21 from each patient, which had apparently lost the entire short arm and a major portion of the centromeric alphoid sequences in their amniocytes. Breakage may have...

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Bibliographic Details
Published in:	Clinical genetics Vol. 50; no. 2; p. 103
Main Authors:	Conte, R A, Mathews, T, Kleyman, S M, Verma, R S
Format:	Journal Article
Language:	English
Published:	Denmark 01-08-1996
Subjects:	Amniocentesis Chromosome Aberrations Chromosomes, Human, Pair 21 - genetics Chromosomes, Human, Pair 21 - ultrastructure Female Genetic Variation Humans In Situ Hybridization Karyotyping Lymphocytes - ultrastructure Male Middle Aged Pregnancy
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Summary:	Fortuitously, within a 1-month period, we were referred two individuals for routine cytogenetic amniocenteses involving one chromosome 21 from each patient, which had apparently lost the entire short arm and a major portion of the centromeric alphoid sequences in their amniocytes. Breakage may have occurred within alphoid sequences resulting in extreme variants. Variations of a similar nature were originally referred to as Christchurch (Ch1) chromosomes and have been wrongly determined to be abnormal. The 21p- chromosome variants were similar in both cases, though they are from unrelated individuals. These rare variants, whose origins were both maternal and have no clinical consequences, were characterized by the FISH-technique to provide a greater degree of certainty.
ISSN:	0009-9163
DOI:	10.1111/j.1399-0004.1996.tb02358.x