2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Case Report: Phenotypic Features Among Four First-Degree Relatives with 17q11.2 Microduplication Syndrome

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This document describes a case report of a family with 17q11.2 microduplication syndrome. The proband, an 8-year-old female, presented with global developmental delay and autism spectrum disorder (ASD). The mother and three siblings also had neurodevelopmental disabilities, including speech delay, learning problems, and mild developmental delay. The family history indicated a pattern of speech delay and learning problems in maternal extended family members as well. The proband had mild dysmorphic facial features and developed obesity around age 6.<br /><br />Genetic analysis revealed a maternally inherited heterozygous 17q11.2 duplication, involving a copy number gain of 1.21 Mb on chromosome 17q11.2. The duplication encompassed genes such as CRLF3 to SUZ12. It was determined that this duplication was unlikely to explain the proband's phenotype. The study also discussed the penetrance of phenotypes associated with NF1 microduplications, including developmental delay, intellectual disability, ASD, dysmorphic features, obesity, short stature, dental problems, hypotonia, seizures, microcephaly, and premature balding.<br /><br />The document provided a pedigree and clinical images of the family members. It also included a growth chart indicating the proband's BMI over time and fluorescence in situ hybridization results showing the presence of the 17q11.2 duplication in the mother but not the father.<br /><br />Overall, this case report contributes to the understanding of the clinical heterogeneity and spectrum of phenotypes associated with 17q11.2 microduplication syndrome.

Asset Subtitle

Presenting Author - Catherine C. Bradley, PhD; Co-Author - Haley Streff, MS; Co-Author - Weimin Bi, PhD; Co-Author - Janice L. Smith, PhD; Co-Author - Jill A. Rosenfeld, MS; Co-Author - Ronit Marom, MD, PhD;

Meta Tag

array CGH

Clinical Applications of Molecular Cytogenetics

FISH

Intellectual disability

Phenotypic delineation of disorders

Co-Author Haley Streff, MS

Co-Author Weimin Bi, PhD

Co-Author Janice L. Smith, PhD

Co-Author Jill A. Rosenfeld, MS

Co-Author Ronit Marom, MD, PhD

Presenting Author Catherine C. Bradley, PhD

Keywords

17q11.2 microduplication syndrome

family case report

global developmental delay

autism spectrum disorder

neurodevelopmental disabilities

speech delay

learning problems

mild dysmorphic facial features

obesity

genetic analysis