Reproduction in a patient with trisomy 8 mosaicism: Case report and literature review

Habecker-Green, Julia; Naeem, Rizwan; Goh, William; Pflueger, Solveig; Murray, Michele; Cohn, Gabriel

doi:10.1002/(sici)1096-8628(19980203)75:4<382::aid-ajmg6>3.0.co;2-s

Cited by 21 publications

(4 citation statements)

References 28 publications

(20 reference statements)

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“…We read with interest the paper by Habecker-Green et al [1998] on the reproductive performance of a patient with constitutional trisomy 8 mosaicism (CT8M). The authors also discuss tumor risk in such patients and the effects on the phenotype of the possible uniparental disomy.…”

Section: To the Editormentioning

confidence: 99%

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Constitutional trisomy 8 mosaicism: Mechanism of origin, phenotype variability, and risk of malignancies

et al. 1998

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Section: To the Editormentioning

confidence: 99%

“…The possibility that phenotypic variability is caused by uniparental disomy (UPD) in the cells with normal karyotype consequent to the rescue of a trisomic zygote, as suggested by Habecker-Green et al [1998], is unlikely because UPD of chromosome 8 does not seem to affect the phenotype [Piantanida et al, 1997].…”

Section: To the Editormentioning

confidence: 99%

Constitutional trisomy 8 mosaicism: Mechanism of origin, phenotype variability, and risk of malignancies

et al. 1998

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“…Depending on the tissue and proportion of the tissue that contains the trisomic clone, different specific phenotypes can be observed. As previously reported, one case trisomy 8 patient has no obvious clinical symptoms [17].…”

Section: Discussionmentioning

confidence: 85%

Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review

et al. 2019

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BackgroundTrisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians.Case presentationIn this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (< 10− 4), which suggested that the patient had no blood diseases. The peripheral blood karyotype of the patient was 47,XX,+ 8[67]/46,XX [13], and karyotype of amniotic fluid was 46, XX. The next generation sequencing (NGS) result suggested that the proportions of trisomy 8 in different tissues were obviously different; and 0% in amniotic fluid. Last, the chromosomes of the patient and her baby were confirmed using chromosome microarray analysis (CMA), and the results were arr[GRCh37](8) × 3,11p15.5p13(230750–33,455,733) × 2 hmz and normal.ConclusionsThis pregnancy woman was trisomy 8 mosaicism, but the phenotypic was normal, and also the fetus was normal. Carefully cytogenetic diagnoses should be performed for prenatal diagnose.

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“…The characteristic thoracic abnormalities are present in almost every patient with T8M [1][2][3][4][5][6][7]. There is some uncertainty concerning the frequency, because published reports have usually been superficial and only few articles show good quality chest radiographs [2,4,7].…”

Section: Discussionmentioning

confidence: 99%

Broad clavicles in trisomy 8 mosaicism: a new sign

et al. 1999

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Reproduction in a patient with trisomy 8 mosaicism: Case report and literature review

Abstract: We describe a patient with trisomy 8 mosaicism followed through a sixth pregnancy and discuss issues in phenotypic and genotypic variability, the risk for neoplasia, and reproductive risks. Am. J. Med. Genet. 75:382-385, 1998.

Cited by 21 publications

References 28 publications

Constitutional trisomy 8 mosaicism: Mechanism of origin, phenotype variability, and risk of malignancies

Constitutional trisomy 8 mosaicism: Mechanism of origin, phenotype variability, and risk of malignancies

Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review

Broad clavicles in trisomy 8 mosaicism: a new sign

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