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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Prenatal Diagnosis of 6pter-p24 Deletion Syndrome ...
Prenatal Diagnosis of 6pter-p24 Deletion Syndrome in a Fetus Associated with Multiple Posterior Fossa Anomalies and an Unexpected Microarray Result
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Chromosome 6pter-p24 deletion syndrome is a rare chromosomal disorder characterized by the deletion of the distal part of chromosome 6p and is associated with various congenital abnormalities. In this case, a 38-year-old pregnant woman underwent prenatal consultation and was diagnosed with this syndrome. The fetal ultrasound revealed multiple posterior fossa anomalies, including a hypoplastic cerebellar vermis and dilation of the fourth ventricle. The karyotype and chromosomal microarray analysis confirmed the 6pter-p24 deletion.<br /><br />This case expands our understanding of the prenatal phenotype of 6pter-p24 deletion syndrome. Additionally, it provides insights into unusual chromosomal microarray results, highlighting the importance of clinical cytogenetics laboratory practice. The chromosomal microarray analysis showed a de novo terminal deletion on the paternal chromosome 6 and a common benign duplication on the maternal chromosome 6. The large terminal deletion encompassed several genes associated with developmental delay, intellectual disability, hypotonia, abnormal brain MRI, congenital heart disease, and distinctive facial features.<br /><br />The study also mentions a previous case report of a prenatal diagnosis of 6pter-p24 deletion with brain, skeletal, and heart malformations. The results emphasize the benefits of prenatal ultrasound and MRI analyses in detecting such abnormalities.<br /><br />In summary, this case highlights the prenatal diagnosis of chromosome 6pter-p24 deletion syndrome characterized by multiple posterior fossa anomalies. It sheds light on the genetic basis of the syndrome and provides valuable insights into handling unusual microarray results. This information contributes to our understanding of this rare chromosomal disorder and can aid in counseling and managing affected individuals and their families.
Asset Subtitle
Presenting Author - Meng-Chang Hsiao, PhD; Co-Author - Nina Harkavy, MS, CGC; Co-Author - Ronald J. Wapner, MD; Co-Author - Jun Liao;
Meta Tag
Brain/Nervous System
Chromosomal Abnormalities
Clinical Cytogenetics
Co-Author
Nina Harkavy, MS, CGC
Co-Author
Ronald J. Wapner, MD
Co-Author
Jun Liao
Presenting Author
Meng-Chang Hsiao, PhD
Keywords
Chromosome 6pter-p24 deletion syndrome
chromosomal disorder
deletion of chromosome 6p
congenital abnormalities
posterior fossa anomalies
cerebellar vermis hypoplasia
karyotype analysis
chromosomal microarray analysis
prenatal diagnosis
genetic basis
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