1.Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion.
Jiamin SHI ; Shangqin CHEN ; Aihui LU ; Yaqin LIANG ; Qiu WANG ; Chaosheng LU ; Dan WANG
Chinese Journal of Medical Genetics 2023;40(2):234-237
OBJECTIVE:
To explore the genetic basis for a child with facial dysmorphism and multiple malformations.
METHODS:
The child, born at 34+6 weeks' gestation due to premature rupture of amniotic membrane, dichorionic diamniotic twinning and gestational diabetes, was subjected to chromosomal karyotyping analysis and copy number variations sequencing (CNV-seq).
RESULTS:
The child was found to have facial dysmorphism, hypospadia, cryptorchidism and hypotonia. He was found to have a 46,XY,del(3)(p26) karyotype in addition with a 9.80 Mb deletion (chr3: 60 000-9 860 000) encompassing 33 protein coding genes.
CONCLUSION
The 3p26.3p25.3 deletion probably underlay the multiple malformations in this child. Continuous follow-up is required to improve his quality of life.
Humans
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Male
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Chromosome Deletion
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DNA Copy Number Variations
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Quality of Life
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Abnormalities, Multiple/genetics*
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Phenotype