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Distal 13q monosomy and neural tube defects
Genetic Counseling (Geneva, Switzerland)
|February 28, 2018
Summary
Distal monosomy 13q causes birth defects, including neural tube defects (NTDs). Our findings suggest a regulatory element in the 13q22 segment influences NTD development in these cases.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Distal monosomy 13q is a chromosomal disorder associated with various congenital anomalies.
- Neural tube defects (NTDs) are a significant concern in fetuses with distal monosomy 13q, primarily affecting the cranial neural tube.
Observation:
- A fetus presented with typical features of distal monosomy 13q and exencephaly, an early form of anencephaly.
- Analysis of literature revealed a higher prevalence of cranial NTDs (anencephaly, exencephaly, encephaloceles) compared to spina bifida in distal 13q monosomy.
Findings:
- While genes in the 13q33-q34 region are implicated in NTDs, our study found NTDs are more frequent with larger deletions, extending to 13q22 or more proximally.
- This suggests the 13q22 chromosomal segment may contain a regulatory element influencing genes responsible for NTDs.
Implications:
- The 13q22 region's potential regulatory role in NTD development warrants further investigation.
- Understanding these genetic and regulatory mechanisms can aid in genetic counseling and risk assessment for families with distal monosomy 13q.
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