Autosomal dominant intellectual disability type 21 in a neonate.
- Author:
Lan CHEN
1
;
Wen HE
1
;
Ling LIU
1
Author Information
1. Guiyang Maternity and Child Health Care Hospital, Guiyang 550003, China.
- Publication Type:Journal Article
- MeSH:
Exons;
Genetic Testing;
Humans;
Infant, Newborn;
Intellectual Disability/genetics*;
Male;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(3):306-309
- CountryChina
- Language:Chinese
-
Abstract:
This is a case report on a 1-day-old male neonate admitted due to a weak cry for 1 day and recurrent circumoral cyanosis for 2 hours. He had unusual facial features at birth, with a single transverse palmar crease on both hands, flat feet, weak cry, feeding difficulties, congenital heart disease, and abnormality on cerebral MRI. Whole exome sequencing showed a
