Neu Laxova syndrome
Other Names for this Disease
- 3-Phosphoglycerate dehydrogenase deficiency, neonatal form
- Neu-Laxova syndrome
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Your QuestionI had a sibling with Neu-Laxova and I was always told growing up that I would have a 1 in 4 chance of having a child with this condition. I was wondering if that probability was still the same?
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Neu-Laxova is inherited in an autosomal recessive manner. Both parents would need to carry one copy of the mutated gene for the condition in order to have a child with Neu-Laxova. For an individual that has a sibling with Neu-Laxova, the chance of being of carrier is 2/3. Two carriers have a 1 in 4 (25%) chance with each pregnancy of having a child affected by the condition. We strongly recommend you discuss your concerns with a genetics professional to determine your specific risks of being a carrier and having a child with this condition.
Last updated: 8/1/2012
- Manning MA, Cunniff CM, Colby CE. Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet. 2004; 3:240-9. http://www.ncbi.nlm.nih.gov/pubmed/14994231. Accessed 8/1/2012.