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My daughter had a suspicion of Down syndrome, but the examination did not show it. Genetic test result: culture material - peripheral blood lymphocytes, number of mitoses 40, number of analyzed karyograms 4, GTG staining technique 550 karyotype 46, XX bands. Can your daughter have other birth defects syndromes?
Correct karyotype means that no chromosomal abnormalities large enough to be detected by microscopic examination have been detected. However, this does not exclude the presence of very small chromosomal abnormalities that cannot be detected by this type of test.
It should also be remembered that a child's birth defects may be caused not only by chromosomal aberrations. Numerous syndromes of birth defects arise as a result of mutations in individual genes. Therefore, in the case of psychomotor retardation and / or the presence of congenital abnormalities, a further consultation at the genetic clinic is necessary, even if the patient's karyotype is normal.
Depending on the type of congenital abnormalities occurring in the child, its appearance, how it develops physically and mentally, a specialist clinical geneticist makes a clinical diagnosis and, if necessary, orders an appropriate molecular test (DNA).
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Krystyna SpodarKrystyna Spodar - specialist in the field of clinical genetics at NZOZ Genomed, ul. Ponczowa 12, 02-971 Warsaw, www.nzoz.genomed.pl, e-mail: [email protected]
The expert answers questions about genetic diseases and congenital malformations, inheritance, and prenatal diagnosis.
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