A case of mosaic Down's syndrome with two Robertsonian translocations

A baby with stigmata of Down's syndrome was found to be a mosaic with two different cell lines: 45,XX,der(14q;21q)/46,XX,der(21q;21q)+21. The chromosome rearrangements appeared to have risen de novo. Four mechanisms are discussed for the origin of the mosaicism: dissociation of a translocation...

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Bibliographic Details
Published inRevista de investigacion clinica Vol. 48; no. 5; pp. 385 - 388
Main Authors Leal-Garza, C H, Cortés-Gutiérrez, E I, Ortiz-Jalomo, R, García-Cavazos, R
Format Journal Article
LanguageEnglish
Published Mexico 01.09.1996
Subjects
Chromosomes, Human, Pair 14 - genetics
Chromosomes, Human, Pair 21 - genetics
Down Syndrome - genetics
Female
Humans
Infant, Newborn
Karyotyping
Mosaicism - genetics
Translocation, Genetic - genetics
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Summary:A baby with stigmata of Down's syndrome was found to be a mosaic with two different cell lines: 45,XX,der(14q;21q)/46,XX,der(21q;21q)+21. The chromosome rearrangements appeared to have risen de novo. Four mechanisms are discussed for the origin of the mosaicism: dissociation of a translocation (14q;21q) chromosome already present in the 45,XX, der(14q;21q) zygote; two translocation events occurring sequentially at the first and second zygote (46,XX) divisions; a chromatid translocation in a 47,XX,+21 zygote; and an independent origin of the two cell lines.
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ISSN:0034-8376