Tetrasomy 9p: Tissue‐limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review

Grass, Frank S.; Parke, J. C.; Kirkman, Henry N.; Christensen, V.; Roddey, O. F.; Wade, Robert; Knutson, Cam; Spence, J. Edward

doi:10.1002/ajmg.1320470603

Cited by 30 publications

(44 citation statements)

References 14 publications

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“…5 Tetrasomy 9p mosaicism commonly leads to facial dysmorphy associated with moderate to severe mental disability, mild growth retardation, renal and skeletal abnormalities, and congenital heart disease. However, normal phenotypes are also possible.…”

Section: Discussionmentioning

confidence: 99%

“…1,2 These include a number of so-called type I interferonopathies, 3 which are Mendelian diseases associated with a primary upregulation of type I interferon (IFN), a key cytokine in SLE and some IM pathophysiology. 4 Herein, we report for the first time that mosaic forms of tetrasomy 9p 5 can predispose to the development of overlap myositis associated with type I IFN upregulation.…”

mentioning

confidence: 87%

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Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis

et al. 2015

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Pediatric-onset inflammatory myositis (IM) and systemic lupus erythematosus (SLE) are rare inflammatory diseases. Both result from the complex interaction of genetic and environmental factors. An increasing number of Mendelian conditions predisposing to the development of SLE have been recently identified. These include monogenic conditions, referred to as the type I interferonopathies, associated with a primary upregulation of type I interferon (IFN), a key cytokine in the pathogenesis of SLE and some cases of IM. Here, we report on a pediatric-onset inflammatory overlap phenotype in a 6-year-old girl who was shown to carry mosaic tetrasomy 9p. The patient presented with myositis overlapping with lupuslike features. Myositis was characterized by a proximal muscular weakness and HLA class I antigen myofiber overexpression on muscle biopsy. Lupus-like manifestations consisted of pericarditis, pleuritis, and positive antinuclear and anti-SSA (Sjögren-syndrome A) antibodies. Complete remission was achieved with corticosteroids and mycophenolate mofetyl. Analysis of tetrasomy 9p showed mosaic tetrasomy in the 9p24.3q12 region, including the type I IFN cluster, and increased expression of IFN-stimulated genes. These data suggest that mosaic tetrasomy 9p can be associated with an upregulation of type I IFN signaling, predisposing to inflammatory myositis and lupus-like features. Thus, unexplained muscle or other organ involvement in patients carrying mosaic tetrasomy of the type IFN cluster of chromosome 9p should lead to the search for IM and/or lupuslike disease, and karyotype should be performed in patients with SLE or IM with mental retardation.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 87%

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis

et al. 2015

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“…A wide variation in phenotype has been reported in the literature in association with tetrasomy 9p, ranging from mild developmental delay [9] to lethal malformations [3] . It has been suggested that clinical fi ndings may be infl uenced by 3 cytogenetic parameters, i.e.…”

Section: Discussionmentioning

confidence: 99%

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype

McAuliffe

Winsor²,

Chitayat³

2005

Fetal Diagn Ther

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Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a healthy normal adult male with oligospermia who has fathered two normal children. This chromosomal abnormality may be tissue specific, with a higher detection rate in cultured lymphocytes compared with fibroblasts. Therefore, there is an increased chance of missing the abnormality prenatally by amniocentesis or chorionic villus sampling. We are aware of only one other patient in the literature with a normal phenotype associated with mosaicism for this chromosomal abnormality.

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“…17 True mosaic trisomy 2, 5, 16, and 22 have also been described. 18 All reported cases of Pallister-Killian syndrome have occurred sporadically.…”

Section: Discussionmentioning

confidence: 99%

“…The fibroblast cultures were fed in media after 4 days of initiation, after which they were monitored daily and harvested when the mitotic activity was sufficient to obtain suitable metaphase spreads for chromosomal analysis. Standard G-banding techniques revealed a mosaic karyotype, 47, XX, +i(12)(p10) [24]/48, XX, + +i(12)(p10) [7]/46, XX [17]. Tetrasomy for the short arm of chromosome 12 [ +i(12p)] was documented in half the cell population (24 of 48 cells) analysed, two supernumerary isochromosomes [ ++i(12p)] in seven cells, and a normal female karyotype in 17 cells (Figure 1).…”

Section: Perinatal/neonatal Case Presentationmentioning

confidence: 99%