Outcome of de novo balanced translocations ascertained prenatally.
نویسندگان
چکیده
منابع مشابه
FISH – The Best Technique in Characterization of Prenatally Detected Small Supernumerary Marker Chromosomes (sSMC)
sSMCs are a major clinical problem, especially when detected prenatally during cytogenetic analysis. The risk for an abnormal phenotype in prenatally ascertained de novo cases with sSMC is ~13%. This has been refined to 7% for sSMC from acrocentric autosomes (excluding 15s) compared with ∼28% for nonacrocentric autosomes [4] and 30% for all sSMC carriers [1]. Strikingly, 30-50% of pregnancies d...
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High resolution comparative genomic hybridisation (HR-CGH) is a diagnostic tool in our clinical cytogenetics laboratory. The present survey reports the results of 253 clinical cases in which 47 abnormalities were detected. Among 144 dysmorphic and mentally retarded subjects with a normal conventional karyotype, 15 (10%) had small deletions or duplications, of which 11 were interstitial. In addi...
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The aim of this study was to examine the incidence and clinical outcome of de novo chromosomal aberrations retrospectively and provide useful data for genetic counseling in the prenatal cytogenetic diagnosis. We found 17 cases of de novo chromosomal aberrations in 5501 cases of prenatal cytogenetic analysis and reviewed the karyotype, further study, medical records, fetal ultrasound findings an...
متن کاملCryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Investigations of apparently balanced chromosomal rearrangements in patients with abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a proportion of unsuspected imbalances. It was estimated recently that 40% of apparently balanced de novo translocations with abnormal phenotype were associated with cryptic deletion. We explored 47 unrelated mental retardation p...
متن کاملA de novo insertion, detected prenatally, with normal phenotype.
Received 10 July 1991. Accepted 3 September 1991. A 29 year old woman presented for amniocentesis because of a low maternal serum a fetoprotein. She had had eight miscarriages over an 1-1 year period. She had one normal son from her second pregnancy. She, her husband, and the son all had a normal karyotype. The amniocentesis showed an interchromosomal insertion with the non-mosaic karyotype 46,...
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عنوان ژورنال:
- Journal of medical genetics
دوره 26 9 شماره
صفحات -
تاریخ انتشار 1989