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Doctor insights on: Xyy 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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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 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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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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Who discovered patau syndrome?

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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What's turner syndrome?

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 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 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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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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Whats patau syndrome?

What is it.: Patau's syndrome is the presence of various dysmorphic features in a child a set of three chromosomes 13. This is called trisomy, in this case, trisomy 13. ...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's patau syndrome?

What's patau syndrome?

Lethal Trisomy 13.: Patau syndrome refers to a perinatally lethal condition that results from an extra chromosome 13. It usually features holoprosencephaly microcephaly cyclopia proboscis midline facial clefting heart defects omphalocele poor growth clenched fists polyhydramnios kidney anomalies and single umbilical artery. Prompt pregnancy termination should be undertaken upon prenatal diagnosis if <24 weeks. ...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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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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Is paraneoplastic syndrome genetic?

Is paraneoplastic syndrome genetic?

No: There is no genetic relationship to the development of a paraneoplastic syndrome. ...Read more

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Is munchausen syndrome hereditary?

nature and nurture: Like most mental health conditions, munchausen's is most likely a complex interplay between the genome and developmental/ socioemotional influences. ...Read more

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Down syndrome is autosomal dominat?

Down syndrome is autosomal dominat?

No autosomal: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

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What is prader willi syndrome?

A genetic disorder: Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone & trouble gaining weight; food craving & weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, & medical problems due to obesity. ...Read more