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Chinese Journal of Medical Genetics ; (6): 316-320, 2022.
Article in Chinese | WPRIM | ID: wpr-928410


OBJECTIVE@#To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).@*METHODS@#Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents.@*RESULTS@#NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent.@*CONCLUSION@#The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.

Child , Female , Humans , Infant , Family , Genetic Testing , Heterozygote , Intellectual Disability/genetics , Mutation
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 256-259, 2009.
Article in Chinese | WPRIM | ID: wpr-380994


Objective To assess the sensitivity of indices of hip development in children with spastic diple-gia resulting from cerebral palsy. Methods X-ray images of the hips of 57 children with cerebral palsy ( the cere-bral palsy group) were checked, and the acetabular index ( AI), femur head migration percentage ( MP), center-edge angle and neck-shaft angle (NSA) were compared with those of normal children ( the control group, n = 30).Results The differences in MP and NSA between the two groups were significant. The prevalence of hip subluxation was 20.45% among the children with spastic diplegia who could not walk independently, and the prevalence was sig-nificantly greater in children 3 to 5 years old than among those under 3. Conclusion The MP can be used as a sen-sitive index to evaluate hip development. Age is a relevant factor affecting the hip development of children with cere-bral palsy.