Doctor insights on:
Mosaic Turner's Syndrome And Pregnancy
No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read moreSee 1 more doctor answer
When your due date arrives, you will be more than ready to have your baby! Most women deliver the baby somewhere between 37 and 42 weeks. According to the American College of Obstetricians and Gynecologists, only 5% of babies arrive on the exact due date. Approximately 7% of babies are not delivered by 42 weeks, and when that happens, it is referred to ...Read more
Partial: Turner syndrome occurs when a girl only has one x chromosome. Mosaic turner syndrome occurs when some of the cells in a girl have two x chromosomes and the rest have one x chromosome. Women with mosaic turner syndrome can have all of the same problems as women with turner syndrome, but the severity tends to be milder. Short stature, sterility, heart disease, and learning problems can all occur. ...Read moreSee 1 more doctor answer
Timing of error: At conception , the embryo begin duplicating the chromosomes (chms) donated by egg & sperm to form the 23 chromosome pairs. If one x chm didn't make it , you will only have a turner pattern (45 chms xo) . If a normal xx pattern starts but an x is lost after several divisions the mosaic is created by having one normal 46xx & another 45xo cell lines replicating throughput the body. ...Read moreSee 1 more doctor answer
Turners Syndrome: Turner syndrome is caused in females when there is absence of one xchromosime, the girls are born with one x chromosome and the features are.Short stature, broad chest, low hairline, low set ears and webbed neck.There is non functioning ovaries and they do not get menstruation.They are more prone to congenital heartdisease, hypothyriodism, diabetes and few other conditions. ...Read more
Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?
Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. http://ghr.nlm.nih.gov/ is really good (thanks uncle sam). ...Read more
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
2 early MCs, heartbeat seen in 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & antiphosopolipid normal. Way fwd? More tests?
Try again: Abnormal chromosome patterns are seen in many of the MC's studied, so this would not be unexpected. If both you and spouse have been karyotyped & normal, you are not carrying a translocation that would doom you both to expect MC's.Consult the clinical genetics department at Toronto Children's if you have not already and see if their is anything more they recommend. ...Read moreSee 1 more doctor answer
What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?
A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more
Trisomy 13: Patau syndrome is also called trisomy 13. It occurs when a baby has 3 copies of the number 13 chromosome instead of the usual 2 copies. It causes severe physical problems and most babies with trisomy 13 die before birth or within the first year after birth. It usually happens because of an accident which occurs when the egg is fertilized, and occurs more commonly as mothers get older. ...Read moreSee 1 more doctor answer
What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more
Turner's Syndrome: The prognosis for turner's syndrome diagnosed at birth is usually good. They will be short. They have streaked gonads. They can have a webbed neck. There can be lymphedema. There can be associated perceptual problems. They are not necessarily mentally retarded. There can be coarctation of the aorta. ...Read moreSee 1 more doctor answer
What is downs syndrome, fetal alcohol syndrome, high functioning autism, asperger's syndrome and what are the causes?
See below: Down's syndrome. A genetic defect that seems to occur with mother's who are older. Fetal alcohol syndrome: this is caused by excessive intake of alcohol during the pregnancy, especially the early part of pregnancy when the nervous system is developing. As to aspergers, no one is quite sure at this time. ...Read more
Days/weeks.: Stillbirth (see picture) is very common. Of liveborns, 80% of affected infants die within the first month of life; only 5% survive the first six months. Severe intellectual disability, seizures, and failure to thrive are noticeable in survivors over 1 year of age. No interventions for fetal benefit are ethically justifiable during pregnancy (no cesarean section, no fetal monitoring indicated). ...Read more
No: Down syndrome is an abnormality of chromosome numbers, not a mutation on a sex chromosome. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 # 21 chm to the other parents # 21, 3 end up in the egg ; the excess 21 causes the all the problems.Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read moreSee 1 more doctor answer
Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more
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