New chromosomal dysmorphic syndromes
- 1 January 1977
- journal article
- conference paper
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 126 (3), 109-125
- https://doi.org/10.1007/bf00442193
Abstract
This is the report of a family in which a balanced translocation in the mother t(5;10)(p15;p13) led to an unbalanced chromosomal constitution in two children. It was identified by G-banding analysis as trisomy of the distal portion of the short arm of chromosome 10 (p13→pter). Comparison with 15 previous reports of trisomy 10p confirms the existence of a characteristic dysmorphic syndrome. Es wird von einer Familie berichtet, in der durch mütterliche balancierte Translokation t(5;10)(p15;p13) eine unbalancierte Chromosomenkonstitution bei zwei Kindern entstand. Mit Hilfe der G-Bandenanalyse wurde sie als Trisomie des distalen Abschnitts des kurzen Armes von Chromosom 10 (p13→pter) identifiziert. Der Vergleich mit 15 Literaturberichten von Trisomie 10p bestätigt das Vorliegen eines charakteristischen Dysmorphiesyndroms.Keywords
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