Doctor insights on:
Y Chromosome Microdeletion
My husband has microdeletion y chromosome azfc (sy-239 and sy-242) at 50bp. Doctor said this is this is the cause of his azoosperm. Is this genetic?
ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read moreSee 1 more doctor answer
Klinefelter Syndrome: Hi, Klinefelter Syndrome, or XYY syndrome is a syndrome where males have an extra Y chromosome, which makes them 47 XYY rather than 46 XY. It is not a sex-linked, autosomal dominant, nor autosomal recessive disorder. The inclusion of the extra Y chromosome is thought to be a random event, even in cases of 47 XYY mosaicism. Follow this link: http://ghr.nlm.nih.gov/condition/47xyy-syndrome ...Read more
Neither: Any defect like trisomy 13, that involves acquiring an extra chromosome, has nothing to do with dominant or recessive genes. It occurs when usually the egg carries 2 rather than 1 of the 13 chromosomes. Fertilization by a normal sperm with one of every chromosome creates an embryo with three # 13's.If the embryo survives pregnancy it emerges as a trisomy 13 infant with all the problems they have. ...Read more
Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read moreSee 1 more doctor answer
Both or neither.: While neural tube disorders can be a genetic mutation (gene is a functional unit of heredity occupying a specific spot--locus--on a chromosome), they occur most commonly in the setting of Folic Acid deficiency during pregnancy--hence prenatal vitamins with folic acid. Ntds occur in 1/1000 births, and range from spina bifida occulta to anencephaly. ...Read more
Will stop smoking improve sperm quality for 36yo male with noa due to y chromosome azfc microdeletion? Plan for 2nd icsi.
Not my table: This is a highly complex question, and should be best posed to both the geneticists and the reproductive endocrinologists who are likely already involved in your care. However, in general, cigarette smoke impairs sperm motiity and function, and stopping improves it. Whether it makes a difference with your genetic abnormality, I have no clue. ...Read more
MTHFR Mutation Homozygous WasTaking1-40mgLovonox Sht/D [email protected] lived 1Hr/9mins! So Y Cudn't She B Saved?Advice~How2Have A Baby W/My Disorder?
Various.: Zellweger syndrome is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes involved in peroxisome biogenesis, including peroxin-1 (pex1; 602136) on chromosome 7q21, peroxin-2 (pex2; 170993) on 8q21, peroxin-3 (pex3; 603164) on 6q23-q24, peroxin-5 (pex5; 600414) on 12p13, peroxin-6 (pex6; 601498) on 6p21, peroxin-7 (pex7; 601757) on 6q22-q24, peroxin-10 (pe. ...Read more
Klinefelter's : The karyotype of 47, XXY is diagnostic of klinefelter's syndrome. Tall stature, small testes, testicular failure, and gynecomastia are seen in teen boys and men. Often, behavior problems are also seen in these patients. This is fairly common- seen in about 1/500-1/1000 births. ...Read more