Brief Answer: Please send as much details as possible Detailed Answer: Hi Mr. XXXXXXX Thanks for your query. I have gone through your wife's karyotyping report. However, I will not be able to comment at all, in the absence of details. I am extremely sorry to inform you that the Administrators of Healthmagic, strictly PROHIBIT communication by any mode other than this FORUM. You are therefore kindly requested to take your time and type out the ENTIRE health information, IN AS MUCH DETAIL AS POSSIBLE. There may be some problems which you might feel that they are not relevant. However, I will encourage you to mention even the trivial details. I assure you of a professional and sincere advice on all aspects.

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Brief Answer: Further information required as given below Detailed Answer: Hi Mr. XXXXXXX I was keenly awaiting your reply. Having gone through the report, the extra chromosome has not been identified in the test. A normal human being has 46 chromosomes.There are two types of chromosomes: X and Y. Females have 23 pairs of XX chromosomes, while males have 23 pairs of XY chromosomes. The only known extra-chromosomal abnormality in females is XXX (that is, triple X chromosomes. Thus they have 47, instead of 46, chromosomes. This abnormality is commonly called TRISOMY or TRIPLE X SYNDROME. TRISOMY or Triple X Syndrome is commonly associated with menstrual problems and failure of ovaries, which produce ova (eggs). Fusion of male sperm with the female egg results into pregnancy. However, some women with triple X syndrome have given birth to physically normal children with normal chromosomes. Non-identification of the third (extra) chromosome is the hindering factor. The only way to confirm if the extra chromosome too is X, is to correlate with your wife's features. Hence, in order to confirm if your wife is indeed a case of Triple X syndrome, please let me know which off the following features are present in your wife:- * tall stature (what is her height); * small head * vertical skinfolds that may cover the inner corners of the eyes; * speech and language; learning disabilities; * Problem of performing finer works, such as, Poor handwriting, difficulty in stitching etc.. * Problem in fully understanding what has been said by another person. * Poor performance in school/college * weak muscle tone (weakness of muscles). * Curvature of the spine * Mood disorders, such as, anxiety, depression, lack of concentration etc... * Has she have been having Menstrual disorders since childhood? Please elaborate on it more detail * Seizures * Kidney problems * ANY OTHER PROBLEMS THAT SHE HAS, BUT NOT LISTED ABOVE. I will be able to offer professional advice and prognosis, ONLY on receipt of your feedback IN DETAIL. Awaiting your reply, Fond regards and have a nice day, Dr. Rakesh Karanwal

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Brief Answer: Chromosome test --> go for genetic counseling Detailed Answer: Hi Mr. XXXXXXX I have gone through the entire information provided. I presume that all other relevant tests, such as, Thyroid hormone Profile, Serum Prolactin, Female hormones profile, Test for diabetes, Anti-phospholipid antibodies test, Lupus antibodies test; ultrasound of uterus and ovaries, must have been carried out. If yes, I would request you to kindly upload all test reports. Further, assuming that all tests enumerated above are normal, significant number of women with 47 chromosomes abnormality, have a successful pregnancy. So, you should not lose heart, but be optimistic, as the chances of pregnancy are significant. However, on top of the list of priorities, is the ETHICAL ISSUE. Unless the genetic abnormality is fully diagnosed, one cannot predict the likelihood of having a chromosomally normal or abnormal pregnancy. Of course, once your wife is pregnant and progresses uneventfully, she SHOULD UNDERGO PRENATAL GENETIC STUDIES during pregnancy to check whether the genetic make-up of the offspring is normal or abnormal. If the prenatal genetic study during pregnancy indicates a significant abnormality, the child- depending on the type of genetic abnormality- is likely to have several abnormalities. In such an unfortunate event, the child's life would be full of problems. Hence, BEFORE PLANNING FOR THE NEXT PREGNANCY, I would strongly recommend the following course of action :- (a) Get Karyotype analysis of both :you and your wife, from a highly reputed genetic center. (b) Thereafter, on receipt of the Karyotype analysis report, both of you should FIRST go in for genetic counseling, where the Geneticist would apprise you of the genetic abnormality and the likelihood of having a genetically normal or abnormal child. (c) Depending on the Geneticist's opinion, you can THEN, mutually discuss the implications (if any) of a successful pregnancy and, take a unanimous decision. I will certainly be waiting for all test reports. Have a nice day, Dr. Rakesh Karanwal

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Brief Answer: Do All tests BEFORE planning next pregnancy Detailed Answer: Dear Mr. XXXXXXX The unfortunate loss of 2 pregnancies were due to either, genetic (chromosomal) abnormalities; or, other causes. Hence, ALL TESTS, including Karyotype analysis, should be done BEFORE planning the next pregnancy. Corrective measures of a detected abnormality (if any) PRIOR to pregnancy, will drastically improve chances of a healthy/normal and successful pregnancy. If all other tests are normal, Prenatal Genetic studies should be done DURING pregnancy, to detect chromosomal abnormalities (if any) in the fetus. Fond regards, Dr. Rakesh Karanwal

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Brief Answer: Rh Blood grouping and Genetic study required Detailed Answer: Hi Mr. XXXXXXX No tests are required for you, EXCEPT for * Rh Blood grouping (if not already done) and, * genetic study I will be happy to answer further clarifications, if any. Dr. Rakesh Karanwal

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Brief Answer: Procedure of karyotype study is given below Detailed Answer: Hi Mr. XXXXXXX There is a round body, called Nucleus, within each cell of a normal individual. There are 23 pairs of chromosomes (that is, a total of 46 chromosomes) inside the nucleus. Chromosomes are long, narrow strips made of protein components, called Amino Acids. These amino acids are joined in a fixed sequence. The 2 chromosomes of each pair, are woven in a spiral fashion. The genes are located in a specific sequence on chromosomes. Each Gene has a specific role. Both chromosomes, along with the Genes, are EXACTLY identical, that is, a mirror image. In Genetic study (also called Karyotype study), each chromosome and the genes located on it, are matched with the prototype template. Differences (if any) between the patient's chromosomes and the prototype template, are identified. These mismatches between the patient's chromosome and the template, are known as Chromosomal or genetic abnormalities. Thus, each genetic or chromosomal abnormality manifests in the form of different types of abnormalities/defects in the affected individual. In your wife's case, an extra chromosome (apart from 46 chromosomes) was detected. That is, an extra chromosome was found in one of the pairs. In other words, there are 3 chromosomes instead of 2 in that pair. Your wife's cells have 47 chromosomes instead of 46. For example, patients with 3 IDENTICAL chromosomes, are called "super females" who are born with ALL abnormalities (such as, tall stature, small head, learning disabilities; Problem of performing finer works, such as, Poor handwriting, difficulty in stitching; Problem in fully understanding what has been said by another person, Poor performance in school/college, infertility- just to name a few). However, these abnormalities are not present in your wife, because the third chromosome is NOT identical to the other two. The charges for karyotype test varies from place to place. Hence, I have no idea about the rates. You can find the contact number, on the internet, of any Lab where karyotype study facility is available; call them up to find the rates. I hope you find my answer helpful and informative. Take care Dr. Rakesh Karanwal

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