1.
Cytogenet Genome Res
; 162(1-2): 40-45, 2022.
Article
in English
| MEDLINE | ID: covidwho-1938106
ABSTRACT
The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication. Both of the previously reported cases exhibited tandem triplication on a 16p11.2 duplication inherited from 1 parent. We report fraternal twins presenting with developmental delay and 16p11.2 triplication resulting from inheritance of a 16p11.2 duplicated homolog from each parent. This report also reviews the overlapping features in previously published cases of 16p11.2 triplication, and possible implications are discussed.
Subject(s)
Autistic Disorder , Autistic Disorder/genetics , Chromosome Duplication/genetics , Chromosomes, Human, Pair 16/genetics , Databases, Genetic , Female , Humans , Male , Parents , Phenotype
2.
Pediatr Neurol
; 130: 1-3, 2022 05.
Article
in English
| MEDLINE | ID: covidwho-1676878
Subject(s)
COVID-19 , Subarachnoid Hemorrhage , Vasospasm, Intracranial , Child , Humans , Pandemics
3.
Non-conventional
in English
| WHO COVID | ID: covidwho-291050
4.
Non-conventional
in English
| WHO COVID | ID: covidwho-232570