Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.
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.
Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Autistic Disorder
Type of study:
Case report
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Cytogenet Genome Res
Journal subject:
Genetics
Year:
2022
Document Type:
Article
Affiliation country:
000521297
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