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The human ZIC3 gene has been mapped to Xq26.2, the visceral heterotaxy locus HTX1, and has been shown to be mutated in X-linked situs ambiguus and/or complex heart defects. We report on a female fetus with situs ambiguus, asplenia and corrected transposition of the great arteries, displaying a (X;21) translocation. The balanced state of the t(X;21)(q26;p13) was verified by FISH on metaphase chromosomes of the fetus using DOP-PCR products of the microdissected der(21) and Xq-subtelomere specific sequences, and by PRINS withß-satellite specific sequences. Examination with polymorphic markers flanking ZIC3 on DOP-PCR products of the microdissected der(21) chromosome evidenced that the complete copy of the ZIC3 gene was translocated to chromosome 21. Mutations in the fetal and parental ZIC3 genes were excluded by sequencing. Paternal origin of the der(X) and der(21) chromosomes was confirmed by use of polymorphic microsatellite markers from chromosome 21 and from the chromosomal region Xq26, respectively. X chromosome inactivation analysis using a PCR of a polymorphic (CAG)n repeat in the first exon of the androgen receptor gene showed a completely skewed X inactivation pattern with the paternal X as the active X chromosome, thus excluding functional disomy of distal Xq. A positional effect caused by the balanced (X;21) translocation may be responsible for functional nullisomy of ZIC3 and thus explain the situs and cardiac abnormalities in the fetus.European Journal of Human Genetics (2005) 13, 34-40. doi:10.1038/sj.ejhg.5201213 Published online 06 October 2004 [ABSTRACT FROM AUTHOR]

We describe the first inverted duplication of the p21.3p26 region of chromosome 3 in a child with phenotypic features of the trisomy 3p syndrome. This uncommon type of aberration was verified by multicolour fluorescence in situ hybridisation (FISH) using yeast artificial chromosome (YAC) clones from chromosome 3 (CEPH library). With a newly constructed YAC clone from the 3p26 region an unexpected subtelomeric deletion was diagnosed in the aberrant chromosome 3. Using the primed in situ labelling (PRINS) method, telomeres were found to be present on the recombinant chromosome 3. The repeated appearance of concomitant distal deletions in inverted duplications suggests that an overall mechanism exists for the origin of such duplications/deficiencies. [ABSTRACT FROM AUTHOR]

Using somatic cell hybrids, the gene for beta-2 microglobulin has been assigned to human chromosome 15. We found it of interest to study a number of human lymphoid cell lines in light of this finding, to analyze whether spontaneously occurring loss or reduction of beta-2 microglobulin could be correlated with any aberration in chromosome 15. The Daudi cell line was shown to be devoid of any beta-2 microglobulin in total extracts. Chromosome analysis showed that one of the two chromosomes 15 was deleted in the region q14↔q21 on the long arm; in some metaphases, both chromosomes were deleted in this region. The K562 cell line was found to express very low (if any) membrane-associated beta-2 microglobulin. Chromosome analysis showed that this line was near-triploid, with two normal chromosomes 15 and one translocation chromosome t(15;18) involving the long arm of chromosome 15, whereby the segment proximal to the breakage point in band q15 was lost. The Namalwa cell line showed a reduction in membrane-associated and total beta-2 microglobulin. Chromosome analysis showed this line to contain one chromosome 15 which was shorter than its normal homolog. The deletion could be identified as such in the region q14↔q21 in Daudi cells, but is probably somewhat smaller than the one in Daudi cells. Since analyses of beta-2 microglobulin production and chromosomes 15 on several other human cells failed to reveal any abnormalities in either of these respects, we postulate that genes responsible for beta-2 microglobulin synthesis and membrane expression could be located in the region q14→q21 on the long arm of chromosome 15. Since beta-2 microglobulin associated with the membrane was found to be absent in the K562 line, where total beta-2 microglobulin was nearly as high as in cell lines with 'normal' membrane expression, it is suggested that membrane expression of beta-2 microglobulin can be regulated independently [ABSTRACT FROM AUTHOR]

Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region. [ABSTRACT FROM AUTHOR]

In a large family with X-linked retinitis pigmentosa 2 (XLRP2), we reexamined 7 obligate carrier females and 6 daughters of obligate carriers, whose linkage relationships suggested that they carried the XLRP2 gene. The phenotype varied from totally normal eyes through mild retinal changes to complete loss of vision. The X-inactivation analysis was carried out with the highly informative probe M27β on DNA from blood lymphocytes. This probe detects a locus DXS 255 that is differentially methylated on the active and inactive X chromosomes. In 5 blind heterozygotes (aged 43 to 68 years), we found that the X chromosome carrying the RP2 gene was methylated and active in nearly all their cells. The opposite X inactivation pattern was found in a carrier female (aged 45 years) who gave normal findings on eye examination. Carriers with less skewed X inactivation had a less severe clinical outcome. However, we found little or no correlation between their phenotypes and the methylation status of their X chromosomes. Our results suggest that it may be possible to develop a predictive test that could identify cases with severe outcome and perhaps cases with normal outcome. [ABSTRACT FROM AUTHOR]

A new large Danish family with X-linked retinitis pigmentosa was studied for linkage analysis. Carrier diagnosis was performed using full-field electro-retinogram combined with a careful fundus examination. Multipoint linkage analysis, employing DNA markers from the proximal short arm of the X chromosome and the cytogenetic centromere marker, revealed the highest location score distally to DXS255 and proximal to the ornithine carbamoyl transferase locus. In comparison with the first Danish family that we studied, the pericentromeric recombination fraction was increased; it is speculated that the observed difference in genetic distances from the centromere in the 2 Danish families is correlated with a difference in the size and location of the centromeric heterochromatin. [ABSTRACT FROM AUTHOR]

The changes of chromosomal mosaicism are examined in a sample of 39 children. A trend towards an increase in the percentage of normal cells was detected. [ABSTRACT FROM AUTHOR]

Norrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination was observed between the ND-locus (NDP) and the DXS7 locus, the latter followed as a DNA-restriction fragment length polymorphism, detected by the recombinant DNA probe L1.28, and assigned to the region Xp11.2-Xp11.3. The maximum lod scores are $$\hat z = 3.81$$ at $$\hat \theta = 0.00$$ . Linkage data between NDP and the other genetic markers used in the present study are in keeping with this assignment of the mutation to the proximal Xp. [ABSTRACT FROM AUTHOR]

A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism (Xcen) (Friedrich 1982), we were able to localize the RPX gene in Xp close to the centromere rather precisely. The gene order could be deduced by three-point linkage analysis, and the gene distances were determined by pairwise analysis using the LIPED program (Ott 1974). Together with previously published data concerning the RPX:DXS7 linkage (Bhattacharya et al. 1984) a regional gene map is constructed. Xcen-11 cM-RPX-6 cM-DXS7. [ABSTRACT FROM AUTHOR]

The lengths of the secondary constrictions of chromosomes 1, 9, and 16 vary with the degree of contraction of the chromosomes but these constrictions contract to a lesser degree than the euchromatic portions of the chromosomes. The regression coefficient for the regression of the length of the secondary constriction on the length of the euchromatic part of the chromosomes is shown to be larger for large constrictions. It is furthermore shown that there is a linear correlation between the regression coefficient and the size of the secondary constriction in question. This linear correlation makes it possible to correct the lengths of the secondary constrictions to the lengths expected when contraction is average. The correction method is used in a sample of 30 couples, and on the basis of this sample, the normal limits for the lengths of the secondary constrictions in chromosomes 1, 9, and 16 are defined. [ABSTRACT FROM AUTHOR]

Five mentally retarded male patients with a supernumerary small metacentric nonsatellited chromosome were found to have many clinical features in common. The face showed characteristic small crowded features, the bodily habitus was asthenic, and the hands and feet had minor abnormalities. Renal anomalies were present in two patients. One patient had a myelomeningocele. Cytogenetic studies employing Q, R, and C banding in four patients showed the small extra chromosome to have staining properties compatible with an isochromosome of the short arm of chromosome 18. A comparison with previous case reports suggests a new syndrome. However, the identity of the extra chromosome has not yet been determined. [ABSTRACT FROM AUTHOR]

Members of three generations of a single family were examined and found to have a balanced translocation t(11;16)(q13;p11). Cytogenetic investigation and investigation of a number of gene markers is consistent with the current view that the Hp-α locus is situated in the proximity of band 16q22. [ABSTRACT FROM AUTHOR]

Friend murine leukemia virus (F-MuLV) induces leukemia by integration into the cellular genome, thereby changing the structure of expression of cellular oncogenes. Here we describe a new F-MuLV integration site Fre-2 isolated from splenic DNA of an erythroleukemic animal. This site has been found rearranged in 5 out of 63 additional tumors; however, no F-MuLV proviruses could be detected in the vicinity of the rearrangement sites in these 5 cases. The rearrangements represented closely clustered chromosomal breakpoints, presumably chromosomal translocations. Exons transcribed into differentially spliced mRNAs of 1.9 and 3.7 kb have been found near the breakpoint. No sequences that are homologous to Fre-2 could be found in databases. [ABSTRACT FROM AUTHOR]

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In a study of spontaneous abortuses, the karyotype of 80 parental pairs were investigated in detail for chromosomal markers using Quinacrine-stained chromosome preparations from cultures of peripheral blood. Chromosomal markers were found in 26.9% of the parents and there was no difference between the frequency among parents of chromosomally abnormal and chromosomally normal abortuses. Grouping of the markers in p+ or s+ and qh+ variants showed that there was a statistically significant difference between parents with karyotypically normal and abnormal abortuses, p+ and s+ variants being more frequent in the first and qh+ more frequent in the second group. [ABSTRACT FROM AUTHOR]

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Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Zeitschrift für Rechtsmedizin is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This report describes a mother with a balanced intrachromosomal insertion of band q22 on chromosome number 2 into band p24 on the same chromosome. She had had four spontaneous abortions and two induced abortions. One foetus had a suspected obstruction of the uretero-pelvic part of the urinary tract and monosomy of band 2q22, the other foetus had anencephaly and trisomy of band 2q22. By microdissection we have generated a painting probe from the mother's abnormal short arm of chromosome 2 (der2p probe). This family specific probe will be used in future pregnancies for precise diagnosis. [ABSTRACT FROM AUTHOR]

In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were perfermed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 segment and strongly supports its assignment to the proximal long arm of chromosome 19. [ABSTRACT FROM AUTHOR]

A patient with a de novo inversion of chromosome 2 is described. Two of her three children have the same inversion. [ABSTRACT FROM AUTHOR]

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Chromosome examination has been made of 3 children of parents, who had a renal transplantation made and were treated with Imuran. The results of the chromosome examination are shown in Table 2. Investigation of a larger number of such children is needed in order to draw any conclusion about a possible, toxic effect of Imuran on chromosomes. [ABSTRACT FROM AUTHOR]

There was a significant deviation, from the expected seasonal variation, in the births of 53 patients with Klinefelter's syndrome, 47,XXY (P<0.05). There was a comparatively high frequency of patients with Klinefelter's syndrome born in March-April and October. [ABSTRACT FROM AUTHOR]