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, 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.

Artículo en Inglés | MEDLINE | ID: covidwho-1938106

ABSTRACT

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.

Asunto(s)

Trastorno Autístico; Trastorno Autístico/genética; Duplicación Cromosómica/genética; Cromosomas Humanos Par 16/genética; Bases de Datos Genéticas; Femenino; Humanos; Masculino; Padres; Fenotipo

Palabras clave

16p11.2; 16p11.2 CNVs; 16p11.2 triplication; Biparental inheritance; Developmental delay

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Texto completo: Disponible Colección: Bases de datos internacionales Base de datos: MEDLINE Asunto principal: Trastorno Autístico Tipo de estudio: Reporte de caso Límite: Femenino / Humanos / Masculino Idioma: Inglés Revista: Cytogenet Genome Res Asunto de la revista: Genética Año: 2022 Tipo del documento: Artículo País de afiliación: 000521297

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