Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH

Wood, Elizabeth D.; Dowey, Sarah N.; Saul, Daniel O.; Cain, Colyn; Rossiter, Judith Pratt; Stetten, Gail

doi:10.1002/ajmg.a.32184

Cited by 14 publications

(7 citation statements)

References 26 publications

(28 reference statements)

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“…aCGH will likely become an invaluable tool for the detection of clinically relevant mosaic abnormalities as evidenced by the recent identification of postnatal mosaic tetrasomy 12p 39 and trisomy 14, 40 and prenatal mosaic trisomy 8q. 41 In addition, our finding of previously unidentified placental mosaicism in POC specimens with double trisomies using oligonucleotide aCGH underscores the importance of careful interpretation when performing aCGH on DNA from uncultured direct specimens. Given that aCGH is currently unable to detect balanced translocations, inversions, and most polyploidy, 42 traditional cultured chromosome analyses will likely continue to be used in conjunction with aCGH for diagnostic evaluation.…”

Section: Discussionmentioning

confidence: 99%

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization

Scott

Cohen

Brandt

et al. 2010

Genetics in Medicine

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Purpose:To determine the sensitivity of whole-genome oligonucleotide array comparative genomic hybridization for the detection of mosaic cytogenetic abnormalities. Methods: Mosaicism sensitivity was evaluated by testing artificially derived whole chromosome and segmental aneuploidies ranging from 0% to 100% abnormal and additional naturally occurring mosaic specimens. Results: Using combined dye-reversed replicates and an unfiltered analysis, oligonucleotide array comparative genomic hybridization detected as low as 10% and 20 -30% mosaicism from whole chromosome and segmental aneuploidies, respectively. To investigate discrepancies between cultured and uncultured specimens, array comparative genomic hybridization was performed on DNA from additional direct product of conception specimens with abnormal karyotypes in culture. Interestingly, 5 of 10 product of conception specimens with double trisomies on cultured cell analysis had only a single trisomy by array comparative genomic hybridization and quantitative polymerase chain reaction on DNA from the uncultured direct specimen, and all harbored the more commonly observed trisomy. Thus, oligonucleotide array comparative genomic hybridization revealed previously unidentified placental mosaicism in half of the products of conception with double-aneuploid conventional karyotypes. Conclusion: Oligonucleotide array comparative genomic hybridization can detect low-level mosaicism for whole chromosome (ϳ10%) and segmental (ϳ20 -30%) aneuploidies when using specific detection criteria. In addition, careful interpretation is required when performing array comparative genomic hybridization on DNA isolated from direct specimens as the results may differ from the cultured chromosome analysis. Genet Med 2010:12(2):85-92.

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Section: Discussionmentioning

confidence: 99%

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization

Scott

Cohen

Brandt

et al. 2010

Genetics in Medicine

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“…For instance, Jay et al [1999] describe the case of a fetus with hepatic calcification detected at prenatal ultrasound, with no further histological anomalies. In another fetus with bilateral renal enlargement and cortical thinning, there was no histological description [Webb et al, 1998], while for another case displaying abnormal renal ultrasound findings, no fetal tissues were available [Wood et al, 2008]. Therefore, to our knowledge, this is the first report describing histological renal and liver abnormalities in trisomy 8 mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8

Turchetti

Pompilii

Magrini

et al. 2011

American J of Med Genetics Pt A

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We report on a fetus presenting with an increased nuchal translucency, in which chorionic villus sampling led to the diagnosis of mosaic trisomy 8. Ultrasound scan performed at 15(+6) weeks revealed bilateral cleft lip and palate, flat facial profile, and arrhinia. Pregnancy was terminated at 16(+6); postmortem examination showed additional findings including hypospadias, bilateral renal dysplasia, and focal portal fibrosis of the liver. In order to confirm the presence of trisomy 8, FISH analysis was performed in abnormal renal and hepatic tissue, which, unexpectedly, showed a higher fraction of cells with only one fluorescent probe signal (43% and 23%, respectively), if compared with normal fetal liver and kidney (3-10%). This finding is consistent with the survival in this fetus of a monosomic cell line after mitotic non-disjunction, which is in contrast with what is generally thought about mosaic trisomy genesis. We hypothesize that the possible persistence of the monosomic cell line, in addition to the variable distribution of aneuploid cells in the body tissues, could explain the high heterogeneity of mosaic trisomy 8 phenotype.

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“…Constitutional mosaic trisomy 8 (CT8M), also known as Warkany syndrome , has a variable phenotype that may include developmental delay, renal anomalies, dysmorphic facial features, and cardiac defects that sometimes mimic RSS [27]. It is also associated with an increased risk of neoplasia, particularly myeloid hematologic malignancies, although solid tumors have also been reported in association with this karyotype [28–30].…”

Section: Discussionmentioning

confidence: 99%

Intrauterine Growth Retardation Associated with Precocious Puberty and Sertoli Cell Hyperplasia

Lodish

Gartner²,

Albini³

et al. 2010

Horm Metab Res

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The original description of patients with Russell-Silver syndrome included precocious puberty, the mechanism of which was unclear. We describe a child with a Russell-Silver syndrome-like phenotype who presented with precocious puberty that was associated with hyperplasia of the Sertoli cells. The patient was found to have an immature cryptorchid testicle; hyperplastic Sertoli cells were also aneuploid carrying trisomy 8. This chromosomal abnormality was present in Sertoli cells only and could not be detected in peripheral lymphocytes, tunica vaginalis, or other, normal, testicular tissue. Sertoli cells in culture showed excess aromatization providing an explanation for the rapid advancement of the patient’s bone age. We conclude that in a patient with a Russell-Silver syndrome-like phenotype, Sertoli cell hyperplasia was associated with somatic trisomy 8, increased aromatization and gonadotropin-independent precocious puberty.

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Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH

Cited by 14 publications

References 26 publications

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8

Intrauterine Growth Retardation Associated with Precocious Puberty and Sertoli Cell Hyperplasia

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