Doctor insights on:
Chromosome 23 Deletion
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
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
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
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
Not likely: The modern dental x-ray dose is very low. The x-ray beam is also columated so the beam is very small. Virtually no scatter exists. Also, the dentist generally shields your body with a lead apron. The beam is pointed at the patients tooth, not their abdomen. X-rays are much safer than dr oz will have you believe. ...Read more
My 3 year old son has 47 chomosome with a deletion in the chromosome 7 nobody knows the cause for severe anemia and hypoproteinemia. Any idea.
Could be myelodysplastic syndrome with fanconi's anemia, or one of several other aberrations that may arise from chromosome 7 abnormalities. You should be seeing a pediatric hematologist/oncologist, and this may best be handled in your area in a medical school specialty clinic.
Best wishes. ...Read more
I have been told my son has an abnormalities in the brain and delition of chromosome 2, what does it mean?
The term...: ..."abnormalities in the brain" is too vague to be defined. The doctor who told you this should be able to tell you what s/he means. Chromosome segments are sometimes found to be missing. This can sometimes be associated with specific kinds of abnormalities. In any case, the doctor who told you these things should be the one fully explaining them to you. ...Read more
Error in formation: During formation of the egg, the chromosome (c) pairs that make up the normal cell separate and each egg is supposed to have 1/2 of a pair. If a 13 pair does not separate, three rather than a pair of 13's will form when the egg & sperm join. Having an extra 13 in every cell of the fetus confuses the fetal development. Miscarriage or birth defects often occur. ...Read more
Down Syndrome: Trisomies (3 instead of 2 of a certain chromosome) are most common. Down is caused by an extra copy of chromosome 21. Patients usually have lower iq, shortened lifespans and specific facial and anatomic features. Edwards syndrome involves an extra copy of 18. The most common in utero is 16, though spontaneous miscarriage rates are very high. Patau syndrome (extra 13) also has a high mortality. ...Read more
Kliefelter & Turner: Most common is klinefelter's syndrome 47 XXY (male) next most common is turner syndrome 45 xo (female), following are all much less common:- triple x 47 xxx, hermaprodite 46 xx/xy mixed gonadal dysgenesis, 47 xyy & 48 xxyy syndromes. Hermaphroditism can also occur in 46 xx individuals with a fragment of a y chromosome. ...Read more
A bunch: On the medium-sized chromosome 17, there are about 1000 genes, many of which can become broken and cause disease, including neurofibromatosis type 1, charcot-marie-tooth, li-fraumini syndrome, miller-dieker lissencephaly, fronto-temporal dementia, familial mediterranean fever, and many others. The genetics home reference has more info and good links <a href="http://ghr. Nlm. Nih. Gov/chromosome/17" r. ...Read more
Hundreds: A fascinating chromosome, unlike any other. See http://ghr. Nlm. Nih. Gov/chromosome/X ...Read more
A genetic accident: Human cells are supposed to have 23 chromosomes from father's sperm that pair up with 23 chromosomes from mother's egg. If either donation has an extra chromosome because of a genetic error, it is passed along to the fetus most common extra chromosomes in live births are on 13, 18 and 21. They cause unusual physical features, intellectual disability and, sometimes, organ malformations. ...Read more
Depending on: Which chromosome/ portion of chromosome is missing - it could lead to a variety of different medical conditions and it some cases may be lethal. ...Read more
Depends on which: One. It could cause a number of different medical conditions or could be lethal. ...Read more
With all due respect: I'm afraid that this is much to suspicious for asking for help with a homework assignment. Can you say why you would like to know this answer? ...Read more
Usually none.: 62% of 47, xxx women are reportedly physically normal. They have a tendency to be tall, with many reaching the 80%tile by adolescence. Puberty and fertility are within the normal range. Their verbal and performance iqs are 15 to 20 points lower than those of their siblings. These women do not appear to be at increased risk of having chromosomally abnormal offspring. ...Read more