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Paolo Prontera Barbara Buldrini Vincenzo Aiello Rita Gruppioni Alessandra Bonfatti Giovanna Venti Alessandra Ferlini Alberto Sensi Elisa Calzolari Emilio Donti 《黑龙江环境通报》2006,26(6):571-576
We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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M. Brasseur-Daudruy C. Garel V. Brossard F. Broux B. Heckettsweiler D. Eurin 《黑龙江环境通报》2006,26(13):1254-1255
We suggest the term ‘hyper-echogenic colon’ to describe a hyperechoic foetal colonic content with no other intestinal abnormality. This is a rare pattern, which to our knowledge, has never been correlated with a specific pathology. The accidental observation of a cystine kidney stone in an infant who presented with this sign during the prenatal period made it possible to diagnose this disease retrospectively in two other children. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes
Mark J. Pettenati Chris Von Kap-Herr Bethy Jackle Peggy Bobby Philip Mowrey Stuart Schwartz P. Nagesh Rao Jon Rosnes 《黑龙江环境通报》2002,22(3):193-197
Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular–cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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