Partial trisomy 17p detected by spectral karyotyping.

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.

• Authors: S H Morelli, D A Deubler, L J Brothman, J C Carey, A R Brothman
• Journal: Clinical genetics (Clin Genet) Vol. 55 Issue 5 Pg. 372-5 (May 1999) ISSN: 0009-9163 [Print] Denmark
• PMID: 10422810 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Banding
• Chromosomes, Human, Pair 17
• Humans
• In Situ Hybridization, Fluorescence
• Infant, Newborn
• Karyotyping
• Male
• Trisomy