LETTER TO JMG

8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

C-H Tsai¹, S L Graw² and L McGavran^1,3

¹ Department of Pediatrics, Division of Genetics and Metabolism, The Children’s Hospital, Denver, and University of Colorado Health Sciences Center, Denver, CO, USA
² Eleanor Roosevelt Institute, Denver, CO 80206, USA
³ Colorado Genetics Laboratory, Department of Pathology, University of Colorado Health Sciences Center, Denver, CO, USA

Correspondence to:
Correspondence to:
Dr S L Graw, Eleanor Roosevelt Institute, 1899 Gaylord Street, Denver, CO 80206-1210, USA;
sgraw@eri.uchsc.edu.

Keywords: 8p23.1; cardiac defects; chromosome; developmental delay

The first 150 words of the full text of this article appear below.

Multiple patients with rearrangements of the short arm of 8p23.1 have been reported, including inverted and tandem duplications of 8p, deletions of 8p23, pericentric inversions (p23q22), and isolated duplications of 8p23. The clinical significance of duplication of 8p23.1 remains controversial. Krasikov et al,¹ Williams et al,² Barber et al,³ and O’Malley and Storto⁴ together have reported 29 patients in 13 kindreds with duplication of 8p23.1, the vast majority (27/29) of whom were phenotypically normal. One case² was reported to be a developmentally delayed 18 month old male and one patient³ underwent cytogenetic analysis because of short stature. In most of these families (9/13), duplication of 8p23.1 was an incidental finding identified during prenatal diagnosis either for advanced maternal age or indicated by a previous child with an unrelated chromosomal abnormality. Two of the remaining cases³ had a history of spontaneous miscarriages. In many cases there has been . . . [Full text of this article]

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Relevant Article

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

J C Barber, C A Joyce, M N Collinson, J C Nicholson, L R Willatt, H M Dyson, M S Bateman, A J Green, J R Yates, and N R Dennis
J. Med. Genet. 1998 35: 491-496. [Abstract] [PDF]

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