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Doctor insights on: Y Chromosome Microdeletion

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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 factor 7 gene mutation (heterozygote) thrombophila?

Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...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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Whats a gene compared with chromosome?

Whats a gene compared with chromosome?

Gene: Chromosomes carry your genetic material or your genes. ...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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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 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 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 hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...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 a neural tube defect a chromosomal mutation or a gene mutation?

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

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Will stop smoking improve sperm quality for 36yo male with noa due to y chromosome azfc microdeletion? Plan for 2nd icsi.

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

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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

Dr. Alan Ali Dr. Ali
1 doctor agreed:
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Is mrkh genetic?

Dr. Alan Ali Dr. Ali
1 doctor agreed:
Is mrkh genetic?

MRKH syndrome: Etiology unknown, although postulated to be both genetic & environmental. There is incomplete development of the mullerian duct which develops into the female reproductive organs. ...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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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