1.
Chinese Journal of Perinatal Medicine
;
(12): 134-136, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-745994
ABSTRACT
This study reported a case of fetal developmental retardation indicated by ultrasound from 17+2 to 34+5 gestations.Single nucleotide polymorphism (SNP) array was performed to detect the copy number variation in the whole genome for the fetus and parents.A 2.42 Mb deletion at 4p16.3 was found in the fetus,but in neither parents,which suggesting a de novo mutation.Thus,the fetus was finally diagnosed with Wolf-Hirschhorn syndrome.No obvious'Greek warrior helmet'appearance or other facial deformity was observed in the delivered fetus.