Neural Tube Defects Inheritance Pattern
Neural tube defects (NTDs), such as spina bifida and anencephaly, are complex birth defects.
The inheritance pattern for NTDs is primarily multi-factorial. This means that the condition arises from a combination of factors:
- Genetic Factors: Multiple genes contribute to an individual's susceptibility.
- Environmental Factors: External influences like maternal nutrition (e.g., folate deficiency), certain medications, and maternal health conditions play a significant role.
This interaction between numerous genetic and environmental influences explains why NTDs don't follow simple Mendelian inheritance patterns like autosomal dominant, autosomal recessive, or X-linked recessive, where a single gene defect is typically responsible.
Therefore, the most accurate description of the inheritance pattern for neural tube defects is multi-factorial.
Important Questions from Developmental Disorders
Which of the following are correct regarding androgen insensitivity syndrome?
1. Inherited as X-linked recessive disorder
2. Karyotype is 46 XXY
3. It is also called testicular feminization
4. Confirmation of diagnosis by gonadal biopsy
Select the answer using the code given below.
- A 16-year-old girl with primary amenorrhoea presents to the gynaecology OPD for evaluation. She has normal secondary sexual characters. Her karyotype is 46,XX and ultrasound reveals normal ovaries and tubes but absent uterus. What is her clinical diagnosis?
- The Gartner's duct cyst is usually located in
- Which one of the following statements is NOT correct regarding Gastroschisis?
- A 16 year old girl presents with primary amenorrhea with absent vagina, cervix and uterus in the presence of normal secondary sexual characteristics. Ovaries are present on USG. The most probable diagnosis is:
