Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14.
- Resource Type
- journal article
- Authors
- Hall, Georgina K.; Mackie, Fiona L.; Williams, Helen; Williams, Denise; Cox, Phillip; McMullan, Dominic J.; Allen, Stephanie; Kilby, Mark D.
- Source
- Journal of Obstetrics & Gynaecology. Apr2017, Vol. 37 Issue 3, p375-376. 2p.
- Subject
- *CENTRAL nervous system abnormalities
*PREGNANCY
*SKELETAL dysplasia
*CHROMOSOME abnormalities
GENETICS of fetus abnormalities
- Language
- ISSN
- 0144-3615
The article offers a case study of a 32-year-old Pakistani woman suspected with foetal ventriculomegaly during pregnancy and fetus diagnosed with abnormal central nervous system with skeletal dysplasia associated with interstitial tandem triplication of chromosome 14. Topics discussed include radiology revealed platyspondyly and rhizomelic chondrodysplasia punctata; allelic variant in SERPINA3 altered susceptibility to Alzheimer's and Parkinson's disease; and triplicate segment with OMIM genes.