Double autosomal trisomy and mosaicism for three cell lines in man: coexisting trisomy 13-15, trisomy 17-18, and a minority cell line trisomic for a chromosome of both groups.

Garson, O. Margaret; Baikie, A.G.; Ferguson, Jean; Greer, C H

doi:10.1136/jmg.6.2.209

Cited by 8 publications

(1 citation statement)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…One possibility is that the zygote was doubly aneuploid, with subsequent nondisjunctions or anaphase lag producing the singly aneuploid and normal cell lines. A doubly aneuploid cell line was found in two of the reported patients with complex mosaicism involving D-and E-group chromosomes [Garson et al, 1969;Schmidt et al, 19671. The absence of such a cell line in the samples studied in our patient does not exclude this possibility; there may be selection against a doubly aneuploid cell line in vivo so that by 23 years it would be an insignificant proportion of the total cell population.…”

Section: Discussionmentioning

confidence: 96%

Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations

et al. 1983

View full text Add to dashboard Cite

We report on an adult woman with profound mental retardation and multiple anomalies who consists of 3 cell lines: one with trisomy 18, one with trisomy 13, and a normal cell line. Her phenotype includes manifestations of both trisomy syndromes. The origin of these cell lines could have been a doubly aneuploid (48,XX + 13, + 18) or singly aneuploid (47,XX + 18 or 47,XX + 13) zygote with subsequent mitotic nondisjunctions, or a normal zygote with multiple mitotic nondisjunctions. There have been four previous reports of mosaicism involving both trisomy D and trisomy E; all died in the first six months of life. Two of these cases had a doubly aneuploid (48,XX, + D + E) cell line. Our patient illustrates the need for study of several tissues in patients with complex aneuploidy syndromes or atypical manifestations of a given syndrome (such as prolonged survival), as well as the need for caution in counseling families about prognosis for survival in autosomal trisomies which usually are lethal.

show abstract

Section: Discussionmentioning

confidence: 96%

Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations

et al. 1983

View full text Add to dashboard Cite

show abstract

Double Autosomal Trisomy: Case Report (48, Xx, +18, +21) and Review of the Literature

Grosse

Schwanitz

1977

J intellect Disabil Res

View full text Add to dashboard Cite

Trisomy 13/trisomy 18 mosaicism in an infant

Abe¹,

Harada

Itoh

et al. 1996

Clinical Genetics

View full text Add to dashboard Cite

Cytogenetic analysis of amniotic fluid cells from a 31‐week‐old fetus suffering from polyhydramnios revealed that there were two cell lines, each with either trisomy 13 or trisomy 18. We studied the origin and mechanism of formation of this unique mixoploidy by tracing chromosomal heteromorphisms as genetic markers, and showed no discordance of parent‐child transmission between the two cell lines in any of the heteromorphisms examined. The result indicated that the mixoploidy is not chimerism but mosaicism and that the mechanism of mosaic development is most likely due to two non‐disjunctional events which had occurred independently at the two‐cell stage of the zygote. A girl was born at the 38th gestational week and her clinical features were mainly those for trisomy 13. Chromosome analysis of the newborn confirmed +13/+18 mosaicism in fibroblasts from the skin and chorionic plate, while cord blood lymphocytes and chorionic villus cells showed only the +18 cell line.

show abstract

Double autosomal trisomy and mosaicism for three cell lines in man: coexisting trisomy 13-15, trisomy 17-18, and a minority cell line trisomic for a chromosome of both groups.

Cited by 8 publications

References 30 publications

Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations

Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations

Double Autosomal Trisomy: Case Report (48, Xx, +18, +21) and Review of the Literature

Trisomy 13/trisomy 18 mosaicism in an infant

Contact Info

Product

Resources

About