Trisomy 20 mosaicism in a foetus

McDermott, Alan; Gardner, Anne; Ray, B.D.

doi:10.1002/pd.1970010210

Cited by 25 publications

(11 citation statements)

References 11 publications

(2 reference statements)

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“…In these three latter abortuses, cells with trisomy 20 were found in fetal kidney tissues in two (Boub et al, 1979: Jackson, L., personal communication) and in fetal rectum cell tissue in the third (Mikkelsen, M., personal communication). Mosaicism was also confirmed in three out of 13 other cases with successful cytogenetic follow-up studies (BouC et al, 1979;McDermott et al, 1981;Rudd et al, 1976); oiily normal chromosomes were found in 10 cases ( Table 9).…”

Section: Sex Cltromosomesmentioning

confidence: 67%

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

Hsu¹,

1984

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The survey of the incidence of chromosome mosaicism and pseudomosaicism detected in prenatal diagnosis included data from approximately 60 000 genetic amniocenteses in the United States. There were 59 participating cytogenetic laboratories nationwide. The overall incidence of chromosome mosaicism was 0.25 per cent (range of 0-0.89 per cent). The average frequency of pseudomosaicism involving multiple cells or clones was 0.7 per cent (range of 0-11.21 per cent). The frequency of single cell or clone pseudomosaicism was 2.47 per cent (range of 0-11.49 per cent). In cases of pseudomosaicism with trisomy, the most frequently involved chromosome was number 2; occurrence rates of trisomies 7,X,9,17 and 20 were also relatively high. In cases of pseudomosaicism with structural abnormalities, this survey showed an association between relative chromosome size and the frequency of involvement in structural rearrangement. Data on a total of 185 cases of chromosome mosaicism collected in this survey as well as from other documented sources showed 89 cases involved an autosome, 73 cases a sex chromosome, and 23 a marker chromosome. The frequency of noticeable phenotypic abnormalities was highest (37.8 per cent) in the autosomal mosaics and lowest (10.5 per cent) in the sex chromosome mosaics. The average rate for cytogenetic confirmation was 70 per cent.

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Section: Sex Cltromosomesmentioning

confidence: 67%

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

Hsu¹,

1984

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“…Also, it has been seen, upon repeat study, in the absence of fetal abnormalities [McDermott et al, 1981;Hsu and Perlis, 1984;Watson et al, 1984, two cases]. We have not recommended fetoscopy for fetal blood sampling, since the procedure carries a 5% risk for pregnancy loss Watson et al, 19841, and since normal fetal blood chromosomes cannot rule out fetal mosaicism elsewhere.…”

Section: Discussionmentioning

confidence: 84%

Follow‐up of infants with amniotic fluid trisomy 20 mosaicism

1986

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The finding of trisomy 20 mosaicism in amniotic fluid is a cause of considerable anxiety for both physicians and parents. Although the significance of this finding is still not clear, some reassurance can be given to prospective parents, since the outcome has been normal in all reported pregnancies carried to term. Follow-up information on psychomotor development of these infants is needed in order to provide better genetic counseling to these families. We have followed three infants who have had normal growth and psychomotor development up to approximately 2 years.

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“…Of the cases reviewed by Hsu et al (1987), the cytogenetically confirmed fetuses with normal phenotypes are of special interest in the context of our study. McDermott et al (1981) reported a normal phenotype in a second-trimester abortus. Confirmation of trisomy 20 mosaicism was made from studies of placenta, placental membrane, and right and left thighs.…”

Section: Case Reportmentioning

confidence: 98%

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn

Park¹,

Moeschler²,

Rawnsley³

et al. 1989

Prenatal Diagnosis

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Prenatal diagnosis of trisomy 20 mosaicism in this case was based on cytogenetic analysis of cultured amniotic fluid cells (23/252 cells were trisomy 20 representing cells from each of four primary cultures). The pregnancy continued to term and the mosaicism was confirmed in the phenotypically normal male neonate by analysis of cultured foreskin fibroblasts (7/49 cells + 20) and placental cells 20/20 cells + 20) whereas the peripheral lymphocytes were cytogenetically normal (20/20 cells were 46,XY). This represents the first confirmation of trisomy 20 mosaicism in a phenotypically normal full-term neonate.

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Trisomy 20 mosaicism in a foetus

Cited by 25 publications

References 11 publications

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

Follow‐up of infants with amniotic fluid trisomy 20 mosaicism

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn

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