Prenatal Diagnosis of Uniparental Disomy 15 Following Trisomy 15 Mosaicism

Christian, Susan L.; Smith, Ann C. M.; Macha, Michelle; Black, Susan H.; Elder, F.F.B.; Johnson, Jamie M.-P.; Resta, Robert G.; Surti, Urvashi; Suslak, Lorraine; Verp, Marion S.; Ledbetter, David H.

doi:10.1002/(sici)1097-0223(199604)16:4<323::aid-pd856>3.0.co;2-5

Cited by 71 publications

(28 citation statements)

References 21 publications

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“…Maternal disomy may be initially detected as mosaic trisomy 15 during routine prenatal cytogenetic analysis as supported by a study of seven cases of trisomy 15 mosaicism [13] in which two cases were consistent with maternal disomy 15 supporting the theoretical expectation of one-third of the possible outcomes resulting in maternal disomy. Therefore, uniparental disomy testing should be offered in all cases of mosaic trisomy 15 encountered in CVS or amniocentesis studies.…”

Section: Genetic Evaluations and Subtypesmentioning

confidence: 82%

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Butler

Sturich

Myers

et al. 2009

J Assist Reprod Genet

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Background Prader-Willi syndrome (PWS) is a complex genetic disorder with errors in genomic imprinting, generally due to a paternal deletion of chromosome 15q11-q13 region. Maternal disomy 15 (both 15s from the mother) is the second most common form of PWS resulting from a trisomic zygote followed by trisomy rescue in early pregnancy and loss of the paternal chromosome 15. However, trisomy 15 or mosaicism for trisomy 15 may be present in the placenta possibly leading to placental abnormalities affecting gestational age and delivery. Methods and Subjects We examined growth and gestational data from 167 PWS infants (93 males and 74 females; 105 infants with 15q11-q13 deletion and 62 infants with maternal disomy 15) to determine if there are differences in gestation between the two genetic subtypes. Results No significant differences in growth data (birth weight, length, head circumference) or average gestational ages were found between the two genetic subgroups.

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Section: Genetic Evaluations and Subtypesmentioning

confidence: 82%

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Butler

Sturich

Myers

et al. 2009

J Assist Reprod Genet

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“…This case represents only the third reported case of a prospective prenatal diagnosis of maternal heterodisomy for chromosome 15 predictive of Prader-Willi syndrome, without the apparent presence in the fetus of a trisomy 15 cell line (Surh et al, 1994;Christian et al, 1996).…”

Section: Discussionmentioning

confidence: 89%

“…The risk of an abnormal outcome resulting from disomy for any chromosome following trisomic zygote rescue is difficult to predict since (i) although this is a theoretical possibility in 1/3 of trisomic zygote 'rescues', there are very limited prospective data to determine whether the observed risk is as high as this; and (ii) not all trisomic zygote rescues leading to disomy will result in a clinical phenotype, but only in those chromosomes with imprinting effects. However, it is none the less essential to perform molecular investigations for uniparental disomy when the chromosome involved has a known imprinting effect (chromosomes 7, 11, 14, and 15) and may be warranted in all cases of trisomy mosaicism detected at CVS (Ledbetter and Engel, 1995;Christian et al, 1996).…”

Section: Discussionmentioning

confidence: 99%

Prospective Prenatal Diagnosis of Prader–Willi Syndrome due to Maternal Disomy for Chromosome 15 following Trisomic Zygote Rescue

et al. 1997

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“…Prenatal UPD(7) testing, however, is questionable considering the mild phenotype [20]. The risk of UPD(15) when trisomy 15 mosaicism has been detected, upon CV or AF analysis, has been estimated to range from 11% to 29% [21,22]. …”

Section: Discussionmentioning

confidence: 99%

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

et al. 2012

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As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV) and 46 (9.2%) amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC) and long-term culture (LTC) cells. Overall, 19 (3.8%) abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13), two with a sex chromosomal aneuploidy (Klinefelter syndrome), one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8%) abnormal cases, including 12 cases (2.4%) with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

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Prenatal Diagnosis of Uniparental Disomy 15 Following Trisomy 15 Mosaicism

Cited by 71 publications

References 21 publications

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Prospective Prenatal Diagnosis of Prader–Willi Syndrome due to Maternal Disomy for Chromosome 15 following Trisomic Zygote Rescue

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

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