Large Deletion of 5q12 With Dysmorphic Features, Poor Growth, Delays, Behavioral Anomalies, and Seizures: A Case Report and Literature Review
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Co-Author - Gavrielle J. Rood, BS; Co-Author - Jennifer Black, MS, CGC; Co-Author - Scott C. Smith, PhD, FACMG; Co-Author - Louis Pellegrino, MD; Presenting Author - Robert Roger Lebel, MD, FACMG;
Meta Tag
Chromosomal Abnormalities
Clinical History
Counseling
Eye disorders
Genetic Testing
Intellectual disability
Microarray
Risk Assessment
Sequencing
Co-Author Gavrielle J. Rood, BS
Co-Author Jennifer Black, MS, CGC
Co-Author Scott C. Smith, PhD, FACMG
Co-Author Louis Pellegrino, MD
Presenting Author Robert Roger Lebel, MD, FACMG
Keywords
5q12 deletion syndrome
case report
literature review
rare condition
dysmorphic features
poor growth
delays
behavioral anomalies
seizures
clinical features

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