Partial trisomy 17p detected by spectral karyotyping

Authors: Morelli, Susan H¹; Deubler, Debra A¹; Brothman, Lisa J¹; Carey, John C¹; Brothman, Arthur R¹

Source: Clinical Genetics, Volume 55, Number 5, May 1999 , pp. 372-375(4)

Publisher: Blackwell Publishing

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Abstract:

We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. The child had phenotypic features previously associated with trisomy 17p, including facial characteristics, developmental delay, postnatal growth retardation, single transverse crease, inguinal hernia, redundant neck skin folds, congenital heart defect, and club foot. This case illustrates the power of SKY for characterizing derivative/marker chromosomes in patients with rare cytogenetic syndromes.

Keywords: chromosome abnormality; heart block; partial trisomy 17p; spectral karyotyping

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550513.x

Affiliations: 1: Department of Pediatrics,

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