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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Large Deletion of 5q12 With Dysmorphic Features, P ...
Large Deletion of 5q12 With Dysmorphic Features, Poor Growth, Delays, Behavioral Anomalies, and Seizures: A Case Report and Literature Review
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Pdf Summary
This case report and literature review focuses on a rare condition called 5q12 deletion syndrome, which has only been reported in thirteen individuals. The patient in this case study exhibited dysmorphic features, poor growth, delays, behavioral anomalies, and seizures. The patient's clinical features were compared to those in the literature to further understand the syndrome.<br /><br />The patient was born to non-consanguineous parents and had a normal prenatal and neonatal period. At 10 years old, she experienced delays, intellectual disability, behavioral problems, and seizures. Her physical features included almond-shaped eyes, iris heterochromia, large teeth with malocclusion, microcephaly, micrognathia, short stature, and a thin body habitus. The patient's family history included ADD and allergic rhinitis.<br /><br />Genetic analysis revealed a pathogenic 13.7Mb deletion in the 5q12 to q13.3 region, which is associated with 5q12 deletion syndrome. This deletion is larger than most reported cases in the literature. The syndrome is characterized by growth restriction, intellectual disability, behavioral abnormalities, ocular defects, micrognathia, hypotonia, delayed speech, and various dysmorphic features. Seizures have also been reported in patients with this syndrome.<br /><br />The patient's clinical findings align with the typical features of 5q12 deletion syndrome, with some additional features not seen in other reported cases. The comparison of this patient's features to those of the thirteen reported cases provides further insight into the clinical consequences of this rare deletion and the potential range of features associated with it.<br /><br />In conclusion, this case report contributes to the understanding of 5q12 deletion syndrome by describing the clinical features of a patient with a rare deletion and comparing them to the existing literature. The findings highlight the importance of continued research and documentation of rare genetic conditions to improve diagnosis and management strategies.
Asset Subtitle
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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