Diploid‐triploid mosaicism: Report of necropsy findings

Pettenati, Mark J.; Mirkin, L. David; Goldstein, David J.; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320240104

Cited by 15 publications

(7 citation statements)

References 13 publications

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“…Peripheral blood karyotyping indicated triploidy described as 69, XXX in a total of 100 examined metaphases (Figure 2). Chromosome studies on cultured skin biopsy revealed mosaicism for triploid cell line described as 69, XXX[42]/46,XX [8], 84% cells were triploid and 16% were normal female karyotype. The aim of the FISH study was to determine the mosaic level in peripheral blood and skin.…”

Section: Resultsmentioning

confidence: 99%

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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Section: Resultsmentioning

confidence: 99%

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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“…Allerdings treten die typischen Symptomkombinationen und Fehlbildungen variabel auf, was die Blickdiagnose erschweren kann [6,23,24]. Auch zeigen Kinder mit Mosaiken, bei denen triploide mit diploiden Zelllinien gemeinsam vorhanden sind, die typischen klinischen Symptome nur in abgemilderter Form [25,26]. Diese Kinder kön-nen Berichten nach über das Säuglingsalter hinaus überleben [27].…”

Section: Diskussionunclassified

Triploidie: Rasche Diagnosestellung anhand der typischen klinisch erhobenen Stigmata eines lebend geborenen extrem kleinen Frühgeborenen

Kühlwein

Steinbach²,

Barbi³

et al. 2005

Z Geburtshilfe Neonatol

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A child with complete triploidy is rarely born alive. However, owing to the advances in perinatal medicine even extremely immature preterm infants receive full support in the delivery room and are admitted to the neonatal ICU. Consequently, the clinician may also have to consider the diagnosis of triploidy when faced with a dysmorphic extremely preterm infant. We report here the smallest described live born girl of 25 + 5 weeks of gestational age with typical clinical findings of complete triploidy phenotype II. The aim of the case report is to make the neonatologist aware of this syndrome using photographs of this case as well as discussing the literature available. Prompt clinical diagnosis confirmed by chromosome analysis helps doctors and parents with the decision whether to continue promising or to limit futile life support measures.

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“…Diploid–triploid mosaicism is rare (only 20–25 liveborn have been reported) (1–22) but patients with diploid–triploid mixoploidy may survive beyond the neonatal period owing to less severe developmental anomalies than in pure triploidy. As major psychomotor retardation is usually observed in 2n/3n mosaicism, it is important to recognize this chromosomal abnormality before birth.…”

Section: Diploid–triploid Mosaicismmentioning

confidence: 99%