1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 877-880, 2022 Aug 10.
Artigo
em Chinês
| MEDLINE
| ID: mdl-35929940
RESUMO
OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene. CONCLUSION: The child has comorbid XLI and DMD, which is extremely rare.