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. 1976 Dec;13(6):501–506. doi: 10.1136/jmg.13.6.501

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

B S Emanuel, E H Zackai, M M Aronson, W J Mellman, P S Moorhead
PMCID: PMC1013477  PMID: 138742

Abstract

Trisomy-22 was confirmed with both Q- and G-banding in two sibs. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with previous reports. Cytogenetic studies reveal a morphologically atypical No. 22 in cells of the phenotypically normal mother (46,XX) and in both affected children. The variant G chromosome is identified as No. 22 by Q- and G-banding and is interpreted as a product of a pericentric inversion on the basis of general length, arm ratio (1.4), and anomalous satellite association frequency. Repeated nondisjunction for No. 22 is considered to have resulted from asynapsis caused by interference of an inversion loop configuration which, though short, comprised a major part of chromosome 22.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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