Unusually long survival in a case of full triploidy of maternal origin

Fryns, Jean‐Pierre; Kerckhove, A van de; Goddeeris, P; Berghe, Herman Van den

doi:10.1007/bf00527396

Cited by 51 publications

(37 citation statements)

References 28 publications

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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: 90%

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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Section: Resultsmentioning

confidence: 90%

Digynic triploid infant surviving for 46 days

et al. 1999

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“…As the embryo is malformed it cannot survive. 4 The egg of complete mole contains only 23 paternal chromosome, here amniotic sac or embryo is absent. As soon as the egg is fertilized by the sperm trophoblastic cell behave abnormally and this results in a mass of abnormal cells that can grow fluid filled sac (cysts) with the appearance of white grapes.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of molar pregnancy in Rajshahi Medical College Hospital

Shamima¹,

Zereen²,

Hossain³

et al. 2018

KYAMC j.

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Background: A molar pregnancy is also known as hydatidiform mole which is a benign tumour that develops in the uterus. It begins when an egg is fertilized but normal viable pregnancy not occurs, rather than the placenta develops into an abnormal mass of cyst. In all cases of molar pregnancy observation is essential to detect the reawakening of chorionic activity.Objectives: The aim of the study was to explore the incidence, clinical presentation, management and outcome of the molar pregnancy in our hospital.Materials & Methods: This prospective study was conducted in Rajshahi Medical College Hospital, Rajshahi, Bangladesh over a period of one year from July 2016 to June 2017. All pregnant women who were diagnosed as molar pregnancy were included in the study.Results: In this study the incidence of molar pregnancy was 5.3 per 1,000 deliveries that was 1 in 188 deliveries. Among the patients 54.7% were between (23 - 27 years) age group, 81.2% cases were multiparous and 58.4% patients belonged to low socioeconomic status. The prevalent blood group was A and constitute 56.6%. About 62.2% patient presented with amenorrhoea and abnormal vaginal bleeding. 45.3% admitted between (12-16) weeks of gestation. Most of the patients 58.4% were managed by suction and evacuation. Among all the cases 92.4% were complete mole and only 16.9% came for follow up.Conclusion: Results from this study showed that a small portion of patient of molar pregnancy came for routine follow up. To achieve high cure rate and low chemotherapy rate an effective registration programme and treatment protocol should be established.KYAMC Journal Vol. 9, No.-1, April 2018, Page 24-27

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“…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%

“…In 2% of all the conceptuses, spontaneous abortions occurred. 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).…”

Section: Introductionmentioning

confidence: 99%

“…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%

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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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Unusually long survival in a case of full triploidy of maternal origin

Cited by 51 publications

References 28 publications

Digynic triploid infant surviving for 46 days

Digynic triploid infant surviving for 46 days

Evaluation of molar pregnancy in Rajshahi Medical College Hospital

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

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