Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after Msp I digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely...

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Veröffentlicht in:Human genetics 1987-08, Vol.76 (4), p.396-398
Hauptverfasser: CREAU-GOLDBERG, N, GEGONNE, A, DELABAR, J, COCHET, C, CABANIS, M.-O, STEHELIN, D, TURLEAU, C, DE GROUCHY, J
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 21
DNA - genetics
Down Syndrome - genetics
Genetic Markers
Humans
Infant, Newborn
Male
Medical genetics
Medical sciences
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Translocation, Genetic
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Zusammenfassung:Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after Msp I digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00272452