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[Genetic analysis of an infant with duplication of 22q12.1-q13.3]
Rui Li1, Ailing Wang, Jianhong Wang
1Genetic and Prenatal Screening Center, Maternal and Child Health Care Hospital of Jiaozuo, Jiaozuo, Henan 454000, China. kongxd@263.net.
Insights
A genetic study identified a Y chromosome abnormality with a duplication on chromosome 22 (22q12.1-q13.3) in an infant with congenital anomalies. This finding aids in diagnosing rare genetic disorders and genetic counseling.
Area of Science:
- Human Genetics
- Medical Genomics
- Developmental Biology
Background:
- Investigating the genetic etiology of complex congenital malformations is crucial for diagnosis and management.
- Infants with multiple malformations often present diagnostic challenges requiring advanced genetic analyses.
Observation:
- An infant presented with multiple congenital anomalies, including congenital heart disease and cleft palate.
- Conventional karyotyping revealed an add(Y)(q11.23) marker on the Y chromosome.
- Copy number variation sequencing (CNV-seq) identified a triplication of the 22q12.1-q13.3 region.
Findings:
- The infant's karyotype was 46,X,add(Y)(q11.23), with CNV-seq confirming a duplication of 22q12.1-q13.3.
- Parental genetic analyses by karyotyping and CNV-seq were normal, indicating a de novo event in the infant.
Implications:
- The identified duplication on chromosome 22q12.1-q13.3 is strongly associated with the infant's abnormal phenotype.
- CNV-seq is a valuable tool for diagnosing complex genetic conditions, complementing traditional karyotyping.
- Accurate genetic diagnosis improves genetic counseling for families affected by congenital malformations.
Objective:
To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate.
Methods:
The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis.
Results:
The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods.
Conclusion:
The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.
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