Doctor insights on:
Chromosome 9 Deletion Syndrome
I am wondering if people living with c-18Q- chromosomal deletion syndrome have trouble fighting off infections or have low levels of iga.
18q- means a piece: Of The long arm of the 18th chromosome is missing. There are hundreds of different genes located on the long arm, so there are potentially hundreds of different combinations of genes which might be missing and they all could cause different problems depending on the function of the genes missing. See http://ghr. Nlm. Nih. Gov/chromosome/18%22 ...Read more
My daughter has deletion 22q chromosome syndrome. I took highlevels of Dilantin while pregnant with her. Is there a connection?
Difficult to know: Ninety % of these are newly formed accidents in chromosome replication, cause unknown. The issue would be present in the egg or sperm before or at conception. Whether your exposure to Dilantin during formation of your eggs had any effect is not known. High levels of Dilantin during pregnancy do produce an effect on a fetus but chromosome changes is not part of that process. ...Read more
A known syndrome: "a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely...Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, an weak muscle tone." http://ghr. Nlm. Nih. Gov/condition/22q112-duplication ...Read more
No: XYY syndrome is neither autosomal dominant or recessive. See a geneticist about inheritance patterns. It is often causes by chromosome nondysjunction (lack of separation). There is not a particular chromosome but the sex chromosomes are called X and Y. Females typically are XX and Males XY. XYY is causes by a Y chromosome separation issue. XYY individuals are usually normal males ...Read more
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
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
No: Down syndrome is an abnormality of chromosome numbers, not a mutation on a sex chromosome. During conception only one of chromosome of each pair is given by both parents to the fertile egg. If a parent adds their 2 # 21 chm to the other parents # 21, 3 end up in the egg ; the excess 21 causes the all the problems. Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more
Nondisjunction: When the cells divide in the ovaries and testes to form eggs and sperm, they go through a process called meiosis where half of the paired chromosomes go to one cell and half go to the other. There is a phenomenon called nondisjunction where the chromosomes segregate unequally, causing an extra chromosome in one cell and the lack of a chromosome in the other. ...Read more
Chromosome 2: p12-11.2 Deletion Syndrome can cause unusual facial features, developmental delays, small head circumference, & increased risk of kidney tumor. Seek a clinical evaluation by a geneticist who has reviewed baby's pre-, peri- & postnatal medical history, head & body growth charts, family history & results of Chromosomal Microarray on baby & parents to obtain a correct diagnosis & prognosis. ...Read more
Sex chromosome: Turner syndrome involves the survival of a fetus that carries only one of 2 sex chromosomes, that being an x which assigns it female sex features. There are mosaic forms that may have mostly one x while a percentage of cells carry xx. The non-sex chromosomes are not involved in this process. ...Read more
Down syndrome.: The most common chromosomal abnormality in a newborn population was trisomy 21 (down), with an incidence of 1 in 730 live births. Abnormalities of the sex chromosomes (eg, monosomy x or turner, xxy, xyy, xxx) and structural balanced rearrangements also occurred frequently. Trisomy 16 is the most common aneuploidy in abortuses. Trisomy 18 (edwards), and 13 (patau) are most common in stillborns. ...Read more
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Other than down syndrome, what are two diseases that occur when an abnormal number of chromosomes develop?
Can you tell me is hurler's syndrome nondisjunction, a sex-linked disorder or a type of mutation in a specific chromosome?
Recessive disorder: Hurler syndrome is caused by a mutation in idua gene located in chromosome #4. It is an autosomal recessive condition which means that one has both copies of the gene changed, the one inherited from father, and the one from mother. Parents are thus carriers of the condition. ...Read more
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 trisomy, instead of two. In 95% of Down syndrome it's diagnostic, but If it didn't detect and suspicion is 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-s ...Read more
Not so simple: There are at least 8 different chromosomes implicated in the many different forms of this condition. Each form is a different level of severity and should be cared for by a team who can address the hearing concerns as well as the visual effects. ...Read more
No specific link:
The congenital melanocytic nevus syndrome is considered sporadic in its occurrence. A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported. See the recent article :
www. Ncbi. Nlm. Nih. Gov/pmc/articles/pmc2994429. ...Read more
1in 1000: According to the national institute of health. ...Read more
Not mutation, number: Down syndrome is an abnormality of chromosome numbers, not a trait or mutation in the gene code. During conception only one of chromosome of each pair is given by both parents to the fertile egg. If a parent adds their 2 nbr 21chm to the other parents nbr 21, 3 end up in the egg ; the excess 21 causes the all the problems. Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more
What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?
Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?
I'm doing a science project on down syndrome and my teacher wants to know dominate recessive or chromosomal (how common) can you help?
Do your homework: There is a simple answer but this is not where you should go to get it. Your instructors are going to want you to provide your references to any data you come up with. Your question suggests you are too young to be submitting questions to HT. You must be 16. ...Read more
What would be a good way to cure down syndrome? What would be a way to remove the extra chromosome from every cell in the body? I need a good idea. Thanks :)
See your doctor: Have your doctor refer you to a genetic counsellor. ...Read more
Cri du chat is a rare genetic disorder to to chromosome deletion on chromosome 5. See the good discussion of it here: https://en. Wikipedia. Org/wiki/Cri_du_chat
Here's a great organization formed to educate and support: https://fivepminus. Org/ ...Read more
Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more
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
Can you tell me how can the chromosomal conditions, trisomy x, xyy syndrome and turner syndrome differ?
Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. Http://ghr. Nlm. Nih. Gov/ is really good (thanks uncle sam). ...Read more
I have mosaic Turner syndrome and my karyotype is 45x. Since I don't have typical female chromosomes does this mean I am intersex?
Sexual identity: You are the gender you feel you are as genes only play a part of our sexual identity ...Read more
Are people with chromosome disorders & abnormal syndromes capable of reproduction, breastfeeding, and ejaculating?
Varies with problem: In trisomy 21, the females are fertile but the males are not. The females that carry fragile X are generally fertile and pass the disorder to some of their male offspring who will not be fertile as adults. There are thousands of syndromes, the specifics of which are beyond the space allowed here for answers. ...Read more
Can you tell me about chromosome disorders & abnormal syndromes:- capable of reproduction, breastfeeding, ejaculating?
Varies: This varies with the defect, gender involved and target of associated abnormalities. For example, Down syndrome boys are sterile, girls are not. Fragile X carrier females can be fertile, the affected males are not. There are hundreds of named syndromes and this veries with each. ...Read more
No: By definition CP is a disorder of motion & posture caused by an injury to the developing brain from pregnancy to the 3rd birthday. Kids with chromosome deletions can have issues that mimic CP and some may suffer the same neurologic injury. The main culprits include infection, lack of blood flow or lack of oxygen leading to cell damage. ...Read more
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