Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions
نویسندگان
چکیده
منابع مشابه
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
A large number of cases with supernumerary marker chromosomes (SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and unique sequence probes, as well as forward and reverse painting. We als...
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the interpretation of supernumerary chromosome is important for genetic counseling and prognosis. here, we used snp array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the neonatal intensive care unit of shahid sadoughi hospital in 2015. clinical abnormalities identified in the newborn were dysmorphic...
متن کاملSmall supernumerary marker chromosomes (sSMC) in humans.
Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(...
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Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature ...
متن کاملA small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions.
We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non-s...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2012
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2012.09.002