Long survival in a 69,XXY triploid male

Sherard, J.; Bean, Charles; Bove, Betsy; DelDuca, Vincent; Esterly, Katherine L; Karcsh, Henry J.; Munshi, Gaurang; Reamer, James F.; Suazo, Gloria; Wilmoth, Donna; Dahlke, Mariam B.; Weiss, Carol D.; Borgaonkar, Digamber S.; Reynolds, James F.

doi:10.1002/ajmg.1320250216

Cited by 68 publications

(54 citation statements)

References 7 publications

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“…Rare cases have been reported where infants with triploidy survive beyond the neonatal stage, 12-17 the longest survival reported as yet in an infant with non-mosaic triploidy was 10 1 2 months. 16 The lack of detection of triploid foetuses with the karyotype 69,XYY in this and other studies appears to reflect a very early loss of the conceptus 2,5,10,11 An explanation for this phenomenon could be an insufficient ratio of X chromosomes per haploid set. It is generally thought that triploidies of maternal origin have a longer intrauterine survival compared with those of paternal origin.…”

Section: Intrauterine and Postnatal Survivalmentioning

confidence: 45%

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

et al. 2000

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Triploidy is one of the most frequently observed chromosome abnormalities in spontaneous abortions in humans. The parental origin of the additional chromosome set is known to have a major impact on the phenotype of the foetuses and to result in differences in size and structure of the placenta. Early studies based on cytogenetic polymorphisms indicated a preponderant diandric origin of the triploidies; such detection method, however, is known to be prone to error. Other studies revealed a predominant digynic origin in cases with longer intrauterine survival. It is now thought that, to some extent, a detection bias in favour of cases with associated partial hydatidiform moles may account for the high incidences of diandric cases reported in some studies. Furthermore, depending on the gestational age of the cases analysed there may indeed be differences in the proportion of diandric and digynic triploidies. We investigated the parental origin and mechanisms of formation of triploidy in a group of 25 probands with gestational ages ranging from 8 to 37 weeks. DNA samples were extracted from foetal material and from blood samples of the parents, and were analysed using microsatellite markers. The parental origin of the triploidies was found to be maternal in 20 cases and paternal in 5. Regarding the digynic cases, an error at meiosis I was inferred in 10 cases, whereas in the other half an error occurred at meiosis II. All five diandric cases included in this study were found to be due to dispermy. No significant differences in the average maternal ages were found amongst the different subgroups of patients. European Journal of Human Genetics (2000) 8, 911-917.

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Section: Intrauterine and Postnatal Survivalmentioning

confidence: 45%

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

et al. 2000

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“…Of these, four triploids were digynic in origin: three resulted from maternal second meiotic nondisjunction [Fryns et al, 1977;Arvidsson et al, 1986; presented case] and one was undescribed [Sherard et al, 1986]. The remaining case was paternal resulting from either dispermy or diplospermy [Niemann-Seyde et al, 1993].…”

Section: Resultsmentioning

confidence: 92%

Digynic triploid infant surviving for 46 days

et al. 1999

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We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite DNA polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.

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“…A triploid conceptus possesses 69 chromosomes (1,2). Where some of the different chromosomes in the body's cells such as triploid chromosome and other different chromosomes are either diploid and normal or abnormal is called mosaicism (1)(2)(3)(4). Mosaicism of diploidtriploid has been associated with intrauterine growth retardation (IUGR) and postnatal delayed growth, body or facial growth asymmetry, mental retardation (M.R.…”

Section: Introductionmentioning

confidence: 99%

“…Mosaicism of diploidtriploid has been associated with intrauterine growth retardation (IUGR) and postnatal delayed growth, body or facial growth asymmetry, mental retardation (M.R. ), low set ears, fingers syndactyly, micrognathia, central obesity, frontal prominent and wide forehead, hypotonic muscular and wide nasal bridge (1)(2)(3)(4)(5). Skin pigmentary dysplasia, anomalies in the limb such as syndactyly, clinodactyly and camptodactyl (3), and mental disability (or mental retardation) of variable degree are the main symptoms (2).…”

Section: Introductionmentioning

confidence: 99%

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A Rare Triploidy Case with Long Term Survival: A Case Report Study

Akhlaghdoust

Zarbati

Chaichian

et al. 2017

Iran Red Crescent Med J

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Triploidy is the most frequent chromosome abnormality in the gestational age. According to the study, survival of more than 2 months in triploid patients is very rare. A 7-year-old girl with mild mental retardation with dysmorphism was referred for genetic counseling and clinical evaluation to Sarem medical genetics department (Tehran, Iran, 2013). Clinical features of the child were mental retardation, prominent upper lip, microgenitalia, prominent forehead, foot fingers syndactyly, and short hypoplastic 5th finger. G banding technique, skin biopsy, and Fluorescence in situ hybridization (FISH) testing were performed. Brain Imaging was evaluated. The karyotype of patient showed triploid (69, XXX) chromosome complement in all the metaphase spreads. However, two cell lines were found in metaphase of cultured cutaneous biopsy. The majority of the cells the body were triploid (69, XXX) and 16% of cells were diploid (46, XX). Findings of the FISH testing using X and Y Satellite enumeration probes in all studied peripheral blood lymphocyte (PBL) cells, included 3 signals and none signal respectively indicating X and Y chromosomes. Also, cultured of cutaneous biopsy finding showed 66% of cells had three signals (triploid) and 34 percent of cells had two signals (diploid) and mosaicism was confirmed. Karyotypes of parents and the brain imaging were normal. This study presents a rare case of triploidy with long survival with normal karyotypes of PBL and mosaicism in skin biopsy and interphase FISH.

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Long survival in a 69,XXY triploid male

Cited by 68 publications

References 7 publications

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

Digynic triploid infant surviving for 46 days

A Rare Triploidy Case with Long Term Survival: A Case Report Study

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