Tetrasomy 18p: case report and review of literature

The Application of Clinical Genetics
Shahad BawazeerMajid Alfadhel

Abstract

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations. We compared our case with previously reported ones in the literature. Clinicians should consider tetrasomy 18p in any individual with dysmorphic features and cardiac, skeletal, and renal abnormalities. To the best of our knowledge, we report for the first time an association of this syndrome with partial agenesis of cerebellar vermis.

Citations

Jan 15, 2019·American Journal of Medical Genetics. Part a·Alvaro MoreiraJannine D Cody
Jul 21, 2020·Molecular Cytogenetics·Tingting LiYanyan Zhao
Dec 15, 2018·The Journal of Obstetrics and Gynaecology Research·Gianluca TolvaDonatella Milani
Dec 2, 2021·Journal of Pediatric Ophthalmology and Strabismus·Stephanie Saadeh-JacksonNatario L Couser

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