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J Pediatr Genet 2022; 11(04): 320-323
DOI: 10.1055/s-0040-1721135
Case Report

De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

Amal Alhashem 
1   Department of Pediatrics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
2   Division of Medical Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
,
Saria Alazmeh
1   Department of Pediatrics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
,
Ayla Barakat
1   Department of Pediatrics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
,
Ahmed Alfares
2   Division of Medical Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
3   Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia
,
Hatem Elghezal
4   Cytogenetic and Molecular Genetics Laboratory, Department of Central Laboratory and Blood Bank, Prince Sultan Medical Military City, Riyadh, Saudi Arabia
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Abstract

Ring chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15). The patient presented with short stature, speech delay, café au lait spots, and facial dysmorphic features, together with new findings of left crossed fused renal ectopia and 11 ribs. This presentation was compared with the findings of cases reported previously.

Keywords

array CGH - ring chromosome 15 - short stature


Publication History

Received: 17 July 2020

Accepted: 09 October 2020

Article published online:
02 December 2020

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