Partial trisomy 17p detected by spectral karyotyping
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...
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| Veröffentlicht in: | Clinical genetics 1999-05, Vol.55 (5), p.372-375 |
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| container_title | Clinical genetics |
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| creator | Morelli, Susan H Deubler, Debra A Brothman, Lisa J Carey, John C Brothman, Arthur R |
| description | 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. |
| doi_str_mv | 10.1034/j.1399-0004.1999.550513.x |
| format | Article |
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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. 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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. 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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.</abstract><cop>Copenhagen</cop><pub>Blackwell Publishing Ltd</pub><pmid>10422810</pmid><doi>10.1034/j.1399-0004.1999.550513.x</doi><tpages>4</tpages></addata></record> |
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| ispartof | Clinical genetics, 1999-05, Vol.55 (5), p.372-375 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Abnormalities, Multiple - genetics Biological and medical sciences Chromosome aberrations chromosome abnormality Chromosome Banding Chromosomes, Human, Pair 17 heart block Humans In Situ Hybridization, Fluorescence Infant, Newborn Karyotyping Male Medical genetics Medical sciences partial trisomy 17p spectral karyotyping Trisomy |
| title | Partial trisomy 17p detected by spectral karyotyping |
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