Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin

Vejerslev, Lars O.; Børlum, Karl-Gerhardt; Jensen, N. K.; Mikkelsen, Margareta

doi:10.1111/j.1399-0004.1985.tb00218.x

Cited by 13 publications

(1 citation statement)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Rodriguez et al (1978) and Nevin et al (1979) have proposed that propensity to trisomy 20 might reflect a peculiarity of amniotic fluid cells in culture. In subsequent reports, constitutional mosaicism of the fetus was established by showing trisomy 20 mosaicism, however, in fetal kidney (Schwinger & Rehder 1981), lung and other tissues (Watt et al 1981, Vejerslev et al 1985. Grewal et al (1985) have discussed preferential trophoblastic non-disjunction as a possible explanation for this particular type of mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20mosaicism

Holzgreve¹,

Golabi

Bradley

1986

Clinical Genetics

View full text Add to dashboard Cite

The clinical significance of trisomy 20 mosaicism in amniotic fluid cultures has remained unclear so far. We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells. The child had generalized dysmorphic features, including facial dysmorphy resembling those of a child with Williams syndrome. The boy also had hypotonia and language delay. Although most of the published cases do not mention any abnormalities in children born after prenatal diagnosis of trisomy 20 mosaicism, the distinct cranio‐facial features and the similarities to previous reports of partial or complete chromosome 20 mosaicism raises the possibility that a recognizable pattern of malformation might be associated with the prenatally diagnosable condition in some cases.

show abstract

Section: Discussionmentioning

confidence: 99%

Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20mosaicism

Holzgreve¹,

Golabi

Bradley

1986

Clinical Genetics

View full text Add to dashboard Cite

show abstract

Dilemma of trisomy 20 mosaicism detected prenatally: Is it an innocent finding?

et al. 1998

View full text Add to dashboard Cite

The clinical significance of mosaicism trisomy 20 detected prenatally following amniocentesis remains uncertain, due to the rarity of liveborn cases with inconsistent clinical findings, the short postnatal follow-up, and failure in evaluating other fetal tissues for the presence of the trisomy. We report on a 15 month-old 46,XX chromosome constitution in white blood cells, while skin fibroblasts demonstrated trisomy 20 mosaicism (54%) by fluorescence in situ hybridization (FISH) analysis. Clinical examination of the baby showed only minor phenotypic signs (bilateral epicanthal folds, delayed closure of fontanel with no other gross anomalies), but demonstrated a considerable developmental delay in gross and fine motor skills along with hypotonicity. This is the second oldest described liveborn with trisomy 20 mosaicism confirmed in skin fibroblasts. This cytogenetic aberration along with her developmental delay suggests that the two findings are related and that aberration affects various fetal tissues and is not confined to extra-embryonic tissue as suggested previously. Yet, an undiagnosed condition may be the cause of the child's developmental delay. Based on this case and following a review of the literature we suggest that when mosaic trisomy 20 is identified in amniocytes, further evaluation is required. Cord blood should be analyzed preferably by FISH. During counseling the parents should be advised of an additional risk, such as developmental delay, even when fetal cord karyotype and detailed ultrasonic scan are normal.

show abstract

Cytogenetic and Molecular Genetic Characterization of Trisomy 20 Mosaicism in Fetal Blood and Tissues

et al. 1996

View full text Add to dashboard Cite

We report a case of mosaic trisomy 20, the most common autosomal mosaicism identified in amniocytes, ascertained in a woman referred for amniocentesis because of abnormal ultrasound at 18·1 weeks' gestation which revealed short femurs and nuchal thickening. Metaphase analysis of 98 clones revealed 47,XY,+20 in 96 cells (98 per cent). Trisomy 20 was demonstrated in 6 cells (12 per cent) in a total of 50 cells from two fetal blood cultures obtained after pregnancy termination. Fluorescence in situ hybridization (FISH) analysis of interphase nuclei utilizing a chromosome 20 alpha‐satellite centromeric DNA probe revealed three signals in 57/546 nuclei (10 per cent) in fetal blood. Metaphase analysis of 167 cells from seven different fetal tissue sources revealed trisomy 20 in 32 cells (19·2 per cent). The percentage of trisomy 20 cells varied with tissue type, with the highest percentage (13/25 cells, 52 per cent) identified in the small intestine and lymph nodes and the lowest percentage (1/34 cells, 2·9 per cent) identified in a specimen of chorionic villi. Molecular genetic analyses utilizing polymerase chain reaction (PCR)‐formated dinucleotide repeat polymorphisms demonstrated that the non‐disjunctional event most likely occurred post‐zygotically and that the origin of the extra chromosome 20 was maternal. This study is the first to demonstrate trisomy 20 cells in fetal blood, suggesting that mosaic trisomy 20 can be embryonic in origin. In cases of prenatally detected mosaic trisomy 20, examination of fetal blood should be considered, as well as study of placental membranes, skin, and urine sediment to confirm the karyotype and determine its significance.

show abstract

Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin

Cited by 13 publications

References 15 publications

Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20mosaicism

Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20mosaicism

Dilemma of trisomy 20 mosaicism detected prenatally: Is it an innocent finding?

Cytogenetic and Molecular Genetic Characterization of Trisomy 20 Mosaicism in Fetal Blood and Tissues

Contact Info

Product

Resources

About