Search Results - "ADELSBERGER, P. A"

The meiotic stage of nondisjunction in trisomy 21 : determination by using DNA polymorphisms by ANTONARAKIS, S. E, PETERSEN, M. B, COHEN, M. M, ROULSON, D, SCHWARTZ, S, MIKKELSEN, M, TRANEBJAERG, L, GREENBERG, F, HOAR, D. I, RUDD, N. L, WARREN, A. C, METAXOTOU, C, MCINNIS, M. G, BARTSOCAS, C, CHAKRAVARTI, A, ADELSBERGER, P. A, SCHINZEL, A. A, BINKERT, F, PANGALOS, C, RAOUL, O, SLAUGENHAUPT, S. A, HAFEZ, M

“…We have studied DNA polymorphisms at loci in the pericentromeric region on the long arm of chromosome 21 in 200 families with trisomy 21, in order to determine…”
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Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21 by Petersen, M B, Bartsch, O, Adelsberger, P A, Mikkelsen, M, Schwinger, E, Antonarakis, S E

“…Uniparental disomy has been recently recognized as an important phenomenon in non-Mendelian inheritance of human genetic disorders. Several mechanisms for…”
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No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in down syndrome patients with concomitant familial chromosome rearrangements by SCHINZEL, A. A, ADELSBERGER, P. A, BINKERT, F, BASARAN, S, ANTONARAKIS, S. E

“…The parental origin of the extra chromosome 21 was determined with DNA polymorphisms in seven families in whom the proband and one of the parents carried an…”
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A 48,XXY,+21 down syndrome patient with additional paternal X and maternal 21 by LORDA-SANCHEZ, I, PETERSEN, M. B, BINKERT, F, MAECHLER, M, SCHMID, W, ADELSBERGER, P. A, ANTONARAKIS, S. E, SCHINZEL, A

“…The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The…”
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Down syndrome due to de novo Robertsonian translocation t(14q;21q) : DNA polymorphism analysis suggests that the origin of the extra 21q is maternal by PETERSEN, M. B, ADELSBERGER, P. A, SCHINZEL, A. A, BINKERT, F, HINKEL, G. K, ANTONARAKIS, S. E

“…Down syndrome is rarely due to a de novo Robertsonian translocation t(14q;21q). DNA polymorphisms in eight families with Down syndrome due to de novo…”
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DNA polymorphism analysis in families with recurrence of free trisomy 21 by PANGALOS, C. G, CONOVER TALBOT, C. JR, BINKERT, F, BOUE, J, CORBIN, E, CROQUETTE, M. F, GILGENKRANTZ, S, DE GROUCHY, J, BERTHEAS, M. F, PRIEUR, M, RAOUL, O, SERVILLE, F, LEWIS, J. G, SIFFROI, J. P, THEPOT, F, LEJEUNE, J, ANTONARAKIS, S. E, ADELSBERGER, F. A, PETERSEN, M. B, SERRE, J.-L, RETHORE, M.-O, DE BLOIS, M.-C, PARENT, P, SCHINZEL, A. A

“…We used DNA polymorphic markers on the long arm of human chromosome 21 in order to determine the parental and meiotic origin of the extra chromosome 21 in…”
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Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations by Antonarakis, S E, Adelsberger, P A, Petersen, M B, Binkert, F, Schinzel, A A

“…Down syndrome is rarely due to a de novo duplication of chromosome 21 [dup(21q)]. To investigate the origin of the dup(21q) and the nature of this chromosome,…”
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Analysis of DNA polymorphism suggest that most De Novo dup(21q) chromosomes in patients wiht down syndrome are isochromosomes and not translocations by ANTONARAKIS, S. E, ADELSBERGER, P. A, PETERSEN, M. B, BINKERT, F, SCHINZEL, A. A

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