Ontology highlight
ABSTRACT:
SUBMITTER: Bawazeer S
PROVIDER: S-EPMC5811181 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Bawazeer Shahad S Alshalan Maha M Alkhaldi Aziza A AlAtwi Nasser N AlBalwi Mohammed M Alswaid Abdulrahman A Alfadhel Majid M
The application of clinical genetics 20180208
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tet ...[more]