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Your search keyword '"Wil J. G. Loots"' showing total 2 results
Start Over Author "Wil J. G. Loots" Topic chromosomal inversion
2 results on '"Wil J. G. Loots"'

1. Partial trisomy and monosomy 8p due to inversion duplication

Author

C. E. M. De Die-Smulders, J. P. Fryns, J. C. M. Albrechts, A. J. H. Hamers, Wil J. G. Loots, Jan M.N. Hoovers, J. J. M. Engelen, and M. E. Jacobs

Subjects
Adult, Male, Chromosome engineering, Monosomy, Trisomy, Biology, Chromosome regions, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal Deletion, Chromosomal inversion, Infant, Karyotype, medicine.disease, Molecular biology, Chromosome Banding, Child, Preschool, Karyotyping, Chromosome Inversion, Female, DNA Probes, Chromosome 21, Chromosomes, Human, Pair 8
Abstract

Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studied using G-banding techniques, chromosome painting and FISH with cosmid probes specific for the region 8p23.1-->8pter. In all cases we found a partial inversion duplication of 8p along with a deletion of the region 8p23.1-->8pter.

Published
2008
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2. Mosaic tetrasomy 8p in two patients: Clinical data and review of the literature

Author

Lutgarde C.P. Govaerts, Wil J. G. Loots, Dominique Smeets, J. J. M. Engelen, Martine Borghgraef, Ctrm Schrander-Stumpel, W. P. M. Rijnvos, J. P. Fryns, M. van der Blij-Philipsen, and J. J. M. Peters

Subjects
Pathology, medicine.medical_specialty, Muscle Hypotonia, Developmental Disabilities, Aneuploidy, Biology, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosomal inversion, Genetics, Mosaicism, Infant, Chromosome, Karyotype, medicine.disease, Hypotonia, Chromosome Banding, Face, Karyotyping, Chromosome Inversion, dup, Tetrasomy, Female, medicine.symptom, Chromosomes, Human, Pair 8
Abstract

We report on 2 girls with mosaic tetrasomy 8p. Patient 1 showed the extra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultured fibroblasts [46,XX/47,XX, + i(8p)]. She presented with growth retardation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial alterations; she had the extra iso 8p chromosome in 94% of cultured peripheral lymphocytes. The patients are compared to the 6 previously reported cases. In our experience, the presently reported patients clinically resemble children with inv dup(8)(p21-p22) and patients with mosaic trisomy 8. © 1994 Wiley-Liss, Inc.

Published
1994
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