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[Phenotypic and genetic analysis of a boy with inv dup del(8p)].

Bo Zhang, Weili Cui, Zhenhua Zhang, Jingjie Li, Nan Lyu, Caiyun Ma, Qing Shang

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Abstract

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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What this paper is about

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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Available abstract

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.

Key concepts: Proband, dup, Genetics, Gene duplication, Karyotype, Biology, SNP array, Single-nucleotide polymorphism

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[Phenotypic and genetic analysis of a boy with inv dup del(8p)]. — Research Paper | ScholarLens