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Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.
Badar, Sidrah A; Breman, Amy M; Christensen, Celanie K; Graham, Brett H; Golomb, Meredith R.
  • Badar SA; Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Christensen CK; Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Graham BH; Division of Developmental Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Golomb MR; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
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.
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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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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