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A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications

โœ Scribed by Bernard Thienpont; Jeroen Breckpot; Joris R. Vermeesch; Marc Gewillig; Koen Devriendt


Book ID
116433080
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
332 KB
Volume
51
Category
Article
ISSN
1769-7212

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De novo complex chromosomal rearrangemen
โœ Lรกszlรณ Timรกr; Judit Bรฉres; Gyรถrgy Kosztolรกnyi; Irรฉn Nรฉmeth ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 114 KB

Although rare, complex chromosomal rearrangements have been reported in the literature. The result is multiple congenital malformations in the offspring and recurrent spontaneous abortion. Chromosome 7 is usually involved, but in our patient chromosome 18 was involved.