Журнал клинических случаев

A Rare Chromosome 18p Deletion Syndrome in Abha City: A Case Study

Abstract

Alqahatni YAM

Background: The 18p deletion disorder is a chromosomal condition due to the absence or deletion of a short arm or all the chromosome. The symptoms and signs vary among patients which may include mental and post-natal growth retardation that ranged from moderate to severe. The cause of 18p deletion among 85% of cases is due to de novo deletions and unwarranted hereditary transmission of structural rearrangements among the rest of cases.
Case presentation: A 16-years-old male was presented with dysmorphic features and refereed for chromosomal analysis. He was born full term by vacuum assisted vaginal delivery with a birth weight of 4.5 kg with no gestational complications. His gestation was without any complication. The pre-natal ultrasound showed vesico-urethral reflux on the left side and hypocalcemia. He had speech delay at 11 months, alopecia areata at 13-years-old and at age of 14-yearsold was diagnosed with celiac disease. The MRI brain showed normal brain and chromosomal analysis for dysmorphic features showed brachycephaly, ptosis, squint (intorsion). The study revealed Deletion of a segment of the short arm of chromosome 18 at a breakpoint 18p11.2 band. Chromosomal analysis was of patient’s mother revealed normal karyotype 46-XX.
Conclusion: This case is quite variable than other studies reported in literature as that patient showed mild dysmorphic features with normal brain function. The clinical presentation is associated with 18p deletion which need further diagnosis and essential management as the symptoms vary regarding the quantity of chromosomal loss.