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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 moreSee 2 more doctor answers
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
How do I make a punnutt square for Down Syndrome. Yes, it's a chromosome defect, but it can also be inherited. Answer asap. Thanks!
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
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