2003
DOI: 10.1034/j.1399-0004.2003.00062.x
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Failure of prenatal diagnosis of diploid–triploid mosaicism after amniocentesis

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Cited by 8 publications
(4 citation statements)
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“…If the triploid cell line is found in lymphocytes, it usually comprises <5% of cells [3]. In 2003, Flori et al [7] described an individual who escaped diagnosis until one year of age by cultured skin fibroblasts as the karyotype by amniocentesis, cordocentesis and cultured lymphocytes at birth were all normal. Using the search terms "mosaic, triploid and prenatal" in pubmed from 1963 to present, no prior case of human diploid/triploid mosaicism diagnosed by prenatal amniocentesis has been described.…”
Section: Discussionmentioning
confidence: 99%
“…If the triploid cell line is found in lymphocytes, it usually comprises <5% of cells [3]. In 2003, Flori et al [7] described an individual who escaped diagnosis until one year of age by cultured skin fibroblasts as the karyotype by amniocentesis, cordocentesis and cultured lymphocytes at birth were all normal. Using the search terms "mosaic, triploid and prenatal" in pubmed from 1963 to present, no prior case of human diploid/triploid mosaicism diagnosed by prenatal amniocentesis has been described.…”
Section: Discussionmentioning
confidence: 99%
“…Although DTM detected on amniocentesis more likely suggests fetal involvement,4 13 one case of DTM has been reported in a child with normal amniocentesis. The child was subsequently diagnosed at 1 year of age on culture of skin fibroblasts 15. This highlights the importance of postnatal investigation.…”
Section: Discussionmentioning
confidence: 94%
“…Clinical features of mosaic tetraploidy cases reported include neurologic symptoms such as hyptonia and mental retardation; craniofacial abnormalities including abnormal head shape, prominent forehead, small mouth, malformed and lowset ears, cleft palate, and micrognathia; cardiac, renal, and cerebral deformities. [1][2][3][4][5][6][7][8][9][10][11][12]23 Our patient did not have a marked growth disorder or congenital anomalies in any organ systems except long eyelashes, highly arched palate, and mandibular micrognathia. The severity of anomalies varies and patient survival is from a few minutes after birth up to 21 years.…”
Section: Discussionmentioning
confidence: 99%
“…1 Diploid/triploid mosaicism is a rare chromosomal abnormality and patients with diploid/triploid mixoploidy may survive with less severe anomalies than pure triploidy. [2][3][4][5] The main clinical features of tetraploidy are severely delayed growth and craniofacial abnormalities including micrognathia, cleft palate, small mouth, malformed low-set ears, and prominent forehead. 2,[5][6][7][8][9][10][11][12] Although the medical literature describes the physical manifestations of this genetic abnormality, the oral features of this disorder have not been described.…”
mentioning
confidence: 99%