Frontiers in genetics · 2026
Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12).
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Chen Jia-Yan, Cai Mei-Jiao, Chen Xiao-Lu, Ge Yun-Sheng
Аннотация
INTRODUCTION: This study presents a genetic analysis of three-generation family exhibiting terminal 19p13.3 duplication resulting from a maternal balanced translocation, t (19; 21) (p13.3; p12). Additionally, we reviewed previously reported cases with similar aberrations.
METHODS: Peripheral blood or amniotic fluid samples from six family members were comprehensively analyzed using G-banding, N-banding, fluorescence in situ hybridization (FISH), and copy number variation sequencing (CNV-seq). Furthermore, a genomic mapping analysis was performed on 23 cases of terminal 19p13.3 duplication, combining our findings with those from previously reported cases.
RESULTS: The results demonstrated that the maternal balanced translocation resulted in three offspring inheriting the 19p13.3 terminal duplication. The proband presented with typical clinical features such as intrauterine growth restriction, microcephaly, intellectual disability, developmental delay, and facial abnormalities, in addition to precocious puberty, autism spectrum disorder (ASD) features, and a shortened lingual frenulum. The precocious puberty phenotype is postulated to be associated with the KISS1R gene within the duplicated region. Genomic mapping identified a minimal overlapping region (MOR) of approximately 313 kb (chr19:3,223,850-3,536,224), encompassing four OMIM genes (CELF5, NFIC, DOHH, FZR1) and two protein-coding genes (SMIM24, SMIM44).
CONCLUSION: This study clarifies the genetic mechanism of pure terminal 19p13.3 duplication in offspring resulting from a parental balanced translocation involving D/G group chromosomes. It also defines a novel critical region based on case samples with 19p13.3 terminal duplication, providing new insights into the genotype-phenotype correlations associated with terminal pure 19p13.3 duplications.
METHODS: Peripheral blood or amniotic fluid samples from six family members were comprehensively analyzed using G-banding, N-banding, fluorescence in situ hybridization (FISH), and copy number variation sequencing (CNV-seq). Furthermore, a genomic mapping analysis was performed on 23 cases of terminal 19p13.3 duplication, combining our findings with those from previously reported cases.
RESULTS: The results demonstrated that the maternal balanced translocation resulted in three offspring inheriting the 19p13.3 terminal duplication. The proband presented with typical clinical features such as intrauterine growth restriction, microcephaly, intellectual disability, developmental delay, and facial abnormalities, in addition to precocious puberty, autism spectrum disorder (ASD) features, and a shortened lingual frenulum. The precocious puberty phenotype is postulated to be associated with the KISS1R gene within the duplicated region. Genomic mapping identified a minimal overlapping region (MOR) of approximately 313 kb (chr19:3,223,850-3,536,224), encompassing four OMIM genes (CELF5, NFIC, DOHH, FZR1) and two protein-coding genes (SMIM24, SMIM44).
CONCLUSION: This study clarifies the genetic mechanism of pure terminal 19p13.3 duplication in offspring resulting from a parental balanced translocation involving D/G group chromosomes. It also defines a novel critical region based on case samples with 19p13.3 terminal duplication, providing new insights into the genotype-phenotype correlations associated with terminal pure 19p13.3 duplications.