De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
Joint Authors
Hochstenbach, R.
Lo-A-Njoe, Shirley
van der Veken, Lars T.
Vermont, Clementien
Rafael-Croes, Louise
Keizer, Vincent
Knoers, Nine
van Haelst, Mieke M.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-01-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Lo-A-Njoe, Shirley& van der Veken, Lars T.& Vermont, Clementien& Rafael-Croes, Louise& Keizer, Vincent& Hochstenbach, R.…[et al.]. 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, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100753
Modern Language Association (MLA)
Lo-A-Njoe, Shirley…[et al.]. De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies. Case Reports in Genetics No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100753
American Medical Association (AMA)
Lo-A-Njoe, Shirley& van der Veken, Lars T.& Vermont, Clementien& Rafael-Croes, Louise& Keizer, Vincent& Hochstenbach, R.…[et al.]. De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100753
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100753