2015
DOI: 10.1002/ajmg.a.36932
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

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Cited by 24 publications
(67 citation statements)
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“…Tetrasomy 9p is a rare chromosomal abnormality described as the presence of a supernumerary isochromosome 9p, initially found as a SMC. Further investigation of the SMC commonly shows involvement of the entire 9p, or the entire 9p with part of the heterochromatic region of 9q, or yet the entire 9p with heterochromatic region of 9q, and part of the euchromatic material of 9q [ 5 , 6 ]. Moreover, around 30% of known cases of tetrasomy 9p exhibits chromosome mosaicism.…”
Section: Introductionmentioning
confidence: 99%
“…Tetrasomy 9p is a rare chromosomal abnormality described as the presence of a supernumerary isochromosome 9p, initially found as a SMC. Further investigation of the SMC commonly shows involvement of the entire 9p, or the entire 9p with part of the heterochromatic region of 9q, or yet the entire 9p with heterochromatic region of 9q, and part of the euchromatic material of 9q [ 5 , 6 ]. Moreover, around 30% of known cases of tetrasomy 9p exhibits chromosome mosaicism.…”
Section: Introductionmentioning
confidence: 99%
“…Three of the patients described here are siblings born from parents that showed normal karyotypes in lymphocytes, which suggests that one parent is mosaic for a cell line with a normal karyotype and a cell line with the derivative chromosome 15 (der(15)t(9;15)), and that the abnormal cell line is present in the gonads. Parental mosaicism has been described for tetrasomy of 9p (El Khattabi et al, ); however, in the present case the abnormal cell line in one parent most likely either had a balanced karyotype or was trisomic for 9p.…”
Section: Discussionmentioning
confidence: 53%
“…The most common central nervous system anomalies described in patients with trisomy or tetrasomy 9p are corpus callosum anomalies and hydrocephalic conditions, most often related to Dandy Walker malformation. Dandy Walker malformation is described in 60% of fetuses diagnosed with tetrasomy 9p (El Khattabi et al, ) and 9pter‐p11.2 has been suggested as a critical region for this condition (Chen & Shih, ). Hydrocephalic conditions seem to be more common in patients with tetrasomy 9p than in patients with trisomy 9p (Norman et al, ), although the exact prevalence has not been described.…”
Section: Discussionmentioning
confidence: 99%
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