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Doctor insights on: Mosaic Klinefelter's Syndrome

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Is 46xxy klinefelter's syndrome?

Is 46xxy klinefelter's syndrome?

Yes: Presence of more than one x chromosome with one y chromosome is klinefelter syndrome. ...Read more

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Is klinefelter's syndrome dominent or recessive?

Is klinefelter's syndrome dominent or recessive?

Error in formation: Humans have 23 pairs of chromosomes. During the formation of the egg, each pair splits and one of each travels to the egg. At conception, the sperm brings 22 + an X or Y & the new embryo now has 23 pairs (two of each). In Kleinfelter, the egg retains 2 X chromosomes instead of 1 & the sperm brings a Y.The fetus then has 23 pairs + the extra X. This is an error in formation, not an inherited trait ...Read more

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Does the Asperger syndrome have xyy chromosome?

Does the Asperger syndrome have xyy chromosome?

Not by definition: Someone with xyy may has asperger's disorder but that is not part of the disorder itself. ...Read more

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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

Is XXY klinefelter's syndrome related at all to marfan's syndrome?

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 more

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What is turner syndrome?

What is turner syndrome?

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

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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

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What is mosaic turner syndrome? Common symptoms?

What is mosaic turner syndrome? Common symptoms?

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 more

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What is klienfelter (xxy) syndrome?

What is klienfelter (xxy) syndrome?

XXY: The klinefelter has a pattern of the sex chromosomes as XXY ( with male features). The extra x comes from an egg that had 2 x's at conception when the male y was added.The resulting fetus with 47 chromosomes is compatible with life.The baby will grow up with male sex characteristics, but often a short penis and sterility by adolescence along with other issues. ...Read more

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What is klienfelter (xxy) syndrome?

What is klienfelter (xxy) syndrome?

XXY: The klinefelter has a pattern of the sex chromosomes as XXY ( with male features). The extra x comes from an egg that had 2 x's at conception when the male y was added.The resulting fetus with 47 chromosomes is compatible with life.The baby will grow up with male sex characteristics, but often a short penis and sterility by adolescence along with other issues. ...Read more

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What is may-turner syndrome?

What is may-turner syndrome?

Compressed iliac vei: May- thurner syndrome classically refer to a compression of the left common iliac vein by the iliac artery . This result in left leg pain, swelling and deep vein thrombosis. It has now been expanded and is now called non thrombotic iliac vein lesions (nivl), to include both the right and left iliac veins.). ...Read more

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On what chromosome is zellweger syndrome found?

On what chromosome is zellweger syndrome found?

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

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Is turner's syndrome dominant or recessive?

Neither: It is due to lack of one in the pair of X chromosomes. ...Read more

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What's turner syndrome?

45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss.The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood. ...Read more

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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

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 more

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Is turners syndrome a genetic disorder?

Is turners syndrome a genetic disorder?

Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more

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What is klinefelters syndrome like?

Males with 47 XXY: Klinefelter's syndrome is a genetic disorder in which there is at least one extra x chromosome to a normal human male karyotype, for a total of 47 chromosomes. The principal effects are hypogonadism and reduced fertility. By adulthood, XXY males look similar to males without the condition, although they are often taller. Gynecomastia (enlarged breats) is present in about a third of individuals. ...Read more

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Can you explain mosaic turner syndrome?

Can you explain mosaic turner syndrome?

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 more

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Is klinefelter's syndrome a somatic or genetic mutation?

Is klinefelter's syndrome a somatic or genetic mutation?

More than one x: It is a genetic anomaly in which a phenotypic male has more than one x chromosome, in addition to the y chromosome. The disorder is associated with poor testicular development and infertility, obesity. ...Read more