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Doctor insights on: Trisomy Xxy

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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

Trisomy (Definition)

Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are ...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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What people have XXY chromosomes?

What people have XXY chromosomes?

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

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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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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

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

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 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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Dr. Jay Park Dr. Park
2 doctors agreed:
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Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:
Is williams syndrome a gene or chromosomal mutation ?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...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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Hows patau syndrome inherited?

Hows patau syndrome inherited?

Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth. ...Read more

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Is trisomy 13 dominant or recessive?

Is trisomy 13 dominant or recessive?

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

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Is XYY syndrome- Sex-linked-yes or no; particular chromosome; recessive or dominant?

Is XYY syndrome-                                 
      Sex-linked-yes or no; particular chromosome; recessive or dominant?

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

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What is patau syndrome, a trisomy?

What is patau syndrome, a trisomy?

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 more

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Xo is that turners?

Xo is that turners?

45, XO: This genetic result is compatible with turner's syndrome. However, there are many genetic variations for turner's. ...Read more

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Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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What is the average lifespan of baby born with trisomy 13, patau syndrome?

What is the average lifespan of baby born with trisomy 13, patau syndrome?

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

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Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas bartholin in 1657. ...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