Phenotypic and genetic analysis of a boy with inv dup del(8p) / 中华医学遗传学杂志
Bo ZHANG; Weili CUI; Zhenhua ZHANG; Jingjie LI; Nan LYU; Caiyun MA; Qing SHANG.
Chinese Journal of Medical Genetics
; (6): 581-584, 2021.
Artículo
en Zh
| WPRIM | ID: wpr-879631
OBJECTIVE@#To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.@*METHODS@#The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.@*CONCLUSION@#The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.
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