De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
Files
Publication date
2016-01-06
Authors
Lo-A-Njoe, Shirley
van der Veken, Lars
Vermont, Clementien
Rafael-Croes, Louise
Keizer, Vincent
Hochstenbach, Ron
Knoers, N. V A M
Van Haelst, Mieke M.
Editors
Advisors
Supervisors
Document Type
Article
Metadata
Show full item recordCollections
License
Abstract
Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies.
Keywords
Journal Article
Citation
Lo-A-Njoe, S, van der Veken, L T, Vermont, C, Rafael-Croes, L, Keizer, V, Hochstenbach, R, Knoers, N & van Haelst, M M 2016, 'De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies', Case reports in genetics, vol. 2016, 2861653, pp. 1-5. https://doi.org/10.1155/2016/2861653