Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication

Autor: Cheng-Zeng Wang, Tao Li, Hongdan Wang, Dong Wu, Cunying Cui, Lianzhong Zhang, Lin Liu
Rok vydání: 2017
Předmět:
Adult
Male
0301 basic medicine
Heterozygote
Adolescent
DNA Copy Number Variations
Genetic counseling
Penetrance
030105 genetics & heredity
Biology
Ultrasonography
Prenatal
Young Adult
03 medical and health sciences
1q21.1 microdeletion
Chromosome Duplication
Drug Discovery
Genetics
Humans
Abnormalities
Multiple
Copy-number variation
Child
Molecular Biology
Genetic Association Studies
Research Articles
Genetics (clinical)
Comparative Genomic Hybridization
array‐comparative genomic hybridization
Breakpoint
Infant
Chromosome
Karyotype
Low copy repeats
Megalencephaly
Chromosome Banding
Pedigree
Phenotype
copy number variations
030104 developmental biology
Chromosomes
Human
Pair 1
Child
Preschool
1q21.1 microduplication
Cytogenetic Analysis
Molecular Medicine
Female
Chromosome Deletion
Research Article
Comparative genomic hybridization
Zdroj: The Journal of Gene Medicine
ISSN: 1099-498X
DOI: 10.1002/jgm.2948
Popis: Background Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. Methods In four families, chromosome karyotype was analyzed using G‐banding karyotype analysis technology. CNVs were detected using array‐comparative genomic hybridization (aCGH) and then a quantitative polymerase chain reaction (qPCR) was used to validate candidate CNVs. Sequence signature in the breakpoint region was analyzed using University of California Santa Cruz (UCSC) databases. Results Except for karyotype 45, XX, der (13, 14) (q10, q10) in the mother (I2) of family 2, the karyotype was normal in all other members of the four families. In the mother (I2) and fetus (II2) of family 1, in newborn (II1) of family 2 and in fetus (II1) of family 3, there was 1.22‐Mb heterozygous microdeletion in the chromosome 1q21.1q21.2 region. The child (II1) of family 4 had a 1.46‐Mb heterozygous microduplication in the chromosome 1q21.1q21.2 region. The results of the qPCR were consistent with that of aCGH. There was large number of low copy repeats (LCRs) in the breakpoint region found by analysis of the UCSC database, and multiple LCRs were matched with sequences in the chromosome 1 short‐arm region. Conclusions 1q21.1 microdeletion and microduplication exhibit a variety of clinical manifestations and the specificity of their clinical features is not high. The penetrance of the distal 1q21.1 microdeletion may be affected by other factors in the present study. In summary, we report the discovery of a new distal 1q21.1 microduplication, which enriches the CNV spectrum in the 1q21.1 region and is conducive to prenatal genetic counseling.
Databáze: OpenAIRE
Externí odkaz: