Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report

Abstract

Abstract Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. Case presentation This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype. Conclusion This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.

Keywords

• Chromosome deletion
• 8p11.22-p21.2
• Kallmann syndrome
• FGFR1
• Case report