caa a22 4500 467986568 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197708 doi (NATIONALLICENCE)springer-10.1007/BF00197708 Heterozygous expression of X-linked chondrodysplasia punctata [Elektronische Daten] Complex chromosome aberration including deletion of MIC2 and STS [Doris Wöhrle, Gotthold Barbi, Wolfgang Schulz, Peter Steinbach] Summary: Two females showing partial expression of X-linked chondrodysplasia punctata were identified in a family. Bone dysplasia was caused by an aberrant X chromosome that had an inverse duplication of the segment Xp21.2-Xp22.2 and a deletion of Xp22.3-Xpter. To characterise the aberrant X chromosome, dosage blots were performed on genomic DNA from a carrier using a number of X-linked probes. Anonymous sequences from Xp21.2-Xp22.2 to which probes D2, 99.61, C7, pERT87-15, and 754 bind were duplicated on the aberrant X chromosome. The proposita was heterozygous for all these markers. Dosage blots also showed that the loci for steroid sulfatase and the cell surface antigen 12E7 (MIC2) were deleted as expected from the cytogenetic results. Mouse human cell hybrids were constructed that retained the normal X in the active state. Analysis of these hybrid clones for the markers from Xp21.2-Xp22.2 revealed that all the alleles of the informative markers, present in a single dosage in the genomic DNA, were carried on the normal X chromosome of the proposita. The duplicated X chromosome therefore had two identical alleles, indicating that the aberration resulted from an intrachromosomal rearrangement. Springer-Verlag, 1990 Wöhrle Doris Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut Barbi Gotthold Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut Schulz Wolfgang Institut für Physiologische Chemie I der Universität, Moorenstrasse 5, W-4000, Düsseldorf, Germany aut Steinbach Peter Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut Human Genetics Springer-Verlag 86/2(1990-12-01), 215-218 0340-6717 86:2<215 1990 86 439 https://doi.org/10.1007/BF00197708 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197708 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wöhrle Doris Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut NATIONALLICENCE 700 1- Barbi Gotthold Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut NATIONALLICENCE 700 1- Schulz Wolfgang Institut für Physiologische Chemie I der Universität, Moorenstrasse 5, W-4000, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Steinbach Peter Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 215-218 0340-6717 86:2<215 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer