Sex chromosome mosaicism not detected at amniocentesis

Roland, Birgitte; Cox, David; Rudd, Noreen L.

doi:10.1002/pd.1970100509

Cited by 9 publications

(2 citation statements)

References 8 publications

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“…Prenatal karyotype from amniocentesis showed that 100 per cent of the cells were abnormal and that fetal blood cells were 100 per cent normal. A similar discrepancy has been described recently in which sex chromosome mosaicism was not detected at amniocentesis as described by Roland et al (1990).…”

Section: Discussionsupporting

confidence: 83%

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

et al. 1992

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We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9,t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.

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Section: Discussionsupporting

confidence: 83%

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

et al. 1992

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“…Such problems of specificity have been reported only sporadically 26 27. Although placental mosaicism is a well recognised problem in the use of chorion villus sampling,28 29 30 31 32 this cannot explain the findings concerning amniocentesis.…”

Section: Discussionmentioning

confidence: 99%

Prenatal and postnatal prevalence of Turner's syndrome: a registry study

Gravholt

Juul

Naeraa

et al. 1996

BMJ

167

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Isodicentric Yp: prenatal diagnosis and outcome in 12 cases

et al. 2006

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Our cases show that the prenatal finding of an isodicentric Yp, with or without 45,X mosaicism, is compatible with normal male phenotype in most cases, particularly in the absence of other anomalies. To ensure accuracy in cytogenetic reporting and prenatal counseling, the identification of a structurally abnormal or small Y chromosome, either alone or in the presence of 45,X colonies, should be followed immediately by confirmatory molecular cytogenetic investigations as well as by ultrasound determination of the phenotypic sex of the fetus.

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Sex chromosome mosaicism not detected at amniocentesis

Cited by 9 publications

References 8 publications

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

Prenatal and postnatal prevalence of Turner's syndrome: a registry study

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases

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