Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 704-707, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776825
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child featuring intellectual disability, developmental delay and epilepsy.@*METHODS@#Cytogenetic and molecular analysis including chromosomal karyotyping analysis, single nucleotide polymorphism array (SNP array) and qPCR were performed.@*RESULTS@#The karyotype of the child was determined as 46, XX; SNP array: arr [19]21q22.12q22.13(36 860 195-38 801 482)×1 dn. A heterozygous 1.9 Mb microdeletion was detected at 21q22.12q22.13. qPCR has confirmed deletion of exon 1 of the DYRK1A gene, which has occurred de novo.@*CONCLUSION@#A 21q22 deletion was diagnosed with multiple genetic methods. Genotype-phenotype correlation suggested DYRK1A to be a candidate for intellectual disability.
Full text:
1
Index:
WPRIM
Main subject:
Protein-Tyrosine Kinases
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Developmental Disabilities
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Sequence Deletion
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Protein Serine-Threonine Kinases
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Epilepsy
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Genetic Association Studies
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Genetics
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Karyotyping
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Intellectual Disability
Type of study:
Diagnostic_studies
Limits:
Child
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Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article