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Doctor insights on: X Chromosome Disorders

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Is fetal alcohol syndrome a gene disorder or chromosome disorder?

Is fetal alcohol syndrome a gene disorder or chromosome disorder?

Neither: While the risk for FAS may be elevated in someone with genetic sensitivity, fetal alcohol is due to the birth defects of drinking alcohol during pregnancy. ...Read more

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Is fragile x syndrome dominant or recessive?

Is fragile x syndrome dominant or recessive?

X linked: This syndrome emerges when a male has a fragile x from his asymptomatic mother and a y from his father. If he were she, a normal x from dad or mom would cancel the fragile x effect. ...Read more

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Is williams syndrome a gene or chromosomal mutation ?

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 homocystinuria a gene problem or chromosomal disorder?

Both: The genome is made out of chromossomes which carry dna from both parents. This has similarities to marfan syndrome and it is of dominant inheritance so 50% chance of passing it to the next generation. ...Read more

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What are some x and y chromosomal disorders?

What are some x and y chromosomal disorders?

A few: These are uncommon. You can have extra y chromosomes termed klinefelter's syndrome and you can have only one x termed turner's syndrome. One y only, is lethal. Extra x chromosomes can occur but usually are normal. ...Read more

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Which chromosome causes cml?

Which chromosome causes cml?

Chromosomes 9 and 22: ...are abnormally spliced together in most cases of CML forming a characteristic translocation referred to as the Philadelphia chromosome. At the molecular level this causes a fusion of two genes (BCR and Abl). ...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 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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Can x chromosomal translocation always lead to turner syndrome (in a girl)?

Can x chromosomal translocation always lead to turner syndrome (in a girl)?

Not translocation: Faulty chromosomal distribution result in XO individual with 45 chromosomes (45XO). The paternal sex chromosome is the one more likely to be missing. ...Read more

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Is homocystinuria a genetic or chromosomal disorder?

Is homocystinuria a genetic or chromosomal disorder?

See below: Homocystinuria is a genetic disorder which affects the metabolism of the aminoacid methionine. It is inherited as a autosomal recessive trait trait, ie the child must inherit the non working gene from both the parents to be affected. It presents as failure to thrive, mental retardation, visual problems and bone problems. ...Read more

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Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial  trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more

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What sort of disorder is fragile x syndrome?

What sort of disorder is fragile x syndrome?

Mental retardation: Mental retardation, autistic behavior, large testicles, long face, and large ears. Mainly seen in boys (but inherited from mother). Diagnosed by a blood test. There is an expanded dna segment called a trinucleotide repeat. This expanded dna segment is located on the x chromosome. ...Read more

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What causes fragile x syndrome?

What causes fragile x syndrome?

Chromosome defect: Patients with fragile x have a defective x chromosome. There are several variants, and not all cells may be affected. It is full disease only in males, but females can be carriers. It is a genetic disorder, but it often just occurs without warning. Affected boys can vary from normal to severe retardation and autism. There is no cure. ...Read more

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What happens if a pedigree shows x linked recessive inheritance does it also show autosomal recessive inheritance?

What happens if a pedigree shows x linked recessive inheritance does it also show autosomal recessive inheritance?

No: X-linked recessive inheritance involves asymptomatic females passing a condition to their sons. An example is hemophilia A and B. Usually only males are affected. Autosomal recessive inheritance affects both sexes equally. Two asymptomatic parents can pass a condition to their children 25% of the time on average. ...Read more

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?

Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?

It may, depends: First step is conventional karyotyping, if the clinical suspicion present for Down syndrome, detection of an extra chromosome 21, or triploidy, instead of two. In 95% of Down syndrome it's diagnostic, but If it didn't detect and suspicion still there - next step could be a microarray, which designed to detect submicroscopic abnormalities not detected by regular karyotyping for the rest of 5% D-se ...Read more

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What chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...Read more