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PubMed1993

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.

Rett syndrome is a neurodevelopmental disorder observed exclusively in females. A de novo X;3 translocation was detected in a patient (TH) with Rett syndrome. The X chromosomal breakpoint maps to Xp21.3 between the distal end of the Duchenne muscular dystrophy (DMD) gene and the DXS28 (C7) locus. To determine if this translocation caused the Rett syndrome in this patient, our efforts focused on mapping and cloning of the X chromosomal breakpoint in this patient. Toward these goals, we generated a set of radiation-reduced hybrid cell lines for the short arm of the X chromosome to use as a source for region-specific markers. Using Alu-PCR, 13 new DNA markers were isolated from a radiation-reduced hybrid, which retained both DMD and DXS28. These markers were localized within Xp21 using DNA from males with various interstitial deletions in this region. Two new markers, K23-2p and K23b-1, were found to be closer flanking markers to the X chromosomal breakpoint than DMD and DXS28. Long range restriction mapping using K23-2p and K23b-1 determined that the maximum distance between them was 800 kb. Several of the new markers were developed into sequence tagged-sites and were used to isolate yeast artificial chromosome (YAC) clones. A total of 22 YAC clones was isolated and characterized; these YACs were then developed into 3 large contigs in the Xp21.3 region. This effort resulted in the cloning of the region containing the X chromosomal translocation breakpoint of the Rett syndrome patient in a 170-kb YAC clone.

Animals↗
PubMed1994

Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression.

Meningioma is a common, usually benign, sporadic and solitary tumor of the meninges covering the central nervous system. Meningiomas can become malignant, and such anaplastic tumors are associated with a high rate of recurrence and death from the disease. We analyzed 16 sporadic, anaplastic meningiomas for loss of alleles on the majority of chromosomal arms, in order to define regions in the genome which may be important for tumor progression. Loss of genetic material was observed on all but 2 chromosomes studied. While loss of heterozygozity (LOH) from chromosome 22 was the most frequent finding, LOH from the short arm of chromosome I was the second most common lesion occurring preferentially in tumors from men, and at a frequency almost as high as for LOH on chromosome 22. This suggests the existence of a tumor-suppressor locus on Ip involved in meningioma carcinogenesis. Three tumor samples from one large, anaplastic tumor, each with distinct histopathological characteristics, were studied. All 3 samples showed deletions on 22q and Ip. However, only one tumor sample, with the most malignant histopathological phenotype, displayed, in addition to 22q and Ip, deletions on 9q and 17p. This case suggests that the latter 2 chromosomal regions may harbor genes which contribute to the progression of meningioma.

Chromosome Aberrations↗
PubMed1990

Effect of culture conditions and media on the frequency of chromosomal abnormalities in human sperm chromosome complements.

Human sperm chromosomes can be visualized after fusion with hamster eggs. Most laboratories use one of two methods of sperm treatment for capacitation: incubation in a modified Krebs-Ringer medium (BWW) for 5-7 h at 37 degrees C or storage in a TES-Tris yolk buffer (TYB) for 24-72 h at 4 degrees C. To determine whether data from the two methods were comparable, we performed a series of controlled experiments on one normal donor in which ejaculates were split and one aliquot of sperm was capacitated in BWW for 5-7 h at 37 degrees C (fresh) and the second aliquot was capacitated in TYB for 48 h at 4 degrees C (TYB). After capacitation, the technique used to obtain human sperm chromosome complements was identical for both aliquots. Both fresh and TYB sperm were further subdivided into two groups, which were subjected to either a short (1 h) or a long (3 h) gamete coincubation in BWW. This experiment was performed to determine if the longer incubation in BWW might induce chromosomal fragile sites and breaks because of nutritional depletion of the medium. A total of 458 human sperm chromosome complements was analysed. There was no significant difference in the frequency of sperm chromosomal abnormalities or in the sex ratio in the sperm coincubated with eggs for a short (1 h) or long (3 h) time in BWW. When sperm pretreatments were compared, there was a significant increase in the frequency of total sperm chromosomal abnormalities after TYB storage compared to fresh treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1992

Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20.

The sperm chromosomes of a man heterozygous for inv(20)(p13q11.2) were analyzed. Twenty-six sperm chromosome complements were examined, of which fourteen contained the normal chromosome, and twelve the inverted chromosome. None of the sperm complements contained a recombinant chromosome 20. The frequency of structural chromosomal aberrations unrelated to the inversion was 11.5% (3/26). Numerical aberrations were not observed. The percentages of X- and Y-bearing sperm were 56% and 44%, respectively, which was similar to the expected 1:1 ratio.

Chromosome Inversion↗
PubMed1993

Chromosomal localization of 9 KOX zinc finger genes: physical linkages suggest clustering of KOX genes on chromosomes 12, 16, and 19.

Nine KOX zinc finger genes were localized on four human chromosomes by in situ hybridization of cDNA probes to metaphase chromosomes. KOX1 (ZNF10), KOX11 (ZNF18), and KOX12 (ZNF19) were mapped to chromosome bands 12q24.33, 17p13-p12, and 16q22-q23, respectively. Six other KOX genes were localized on chromosome 19: KOX6 (ZNF14) and KOX13 (ZNF20) to 19p13.3-p13.2, KOX5 (ZNF13) and KOX22 (ZNF27) to 19q13.2-qter, and KOX24 (ZNF28) and KOX28 (ZNF30) to 19q13.4. Pulsed field gel electrophoresis experiments showed that the pairs of KOX genes found on the chromosome bands 12q24.33, 16q22-q23, 19p13.3-p13.2, or 19q13.3-qter lie within 200-300 kb DNA fragments. This suggests the existence of KOX gene clusters on these chromosomal bands.

Chromosome Mapping↗
PubMed1996

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.

A number of human telomeres have been successfully cloned using a modified yeast artificial chromosome (YAC) vector (half-YAC) cloning strategy, but to date, human chromosome 22q has not been identified by this approach. We used an alternative approach of genomic walking, starting from a subtelomeric sequence, Tel-Bam3.4. present on a number of human chromosomes including 22q. This approach was successful in the development of a cosmid contig representing the terminal 140 kb of human chromosome 22q, providing telomeric closure of the genetic and physical maps for 22q. The most distal region of the contig contains subtelomeric repeats which crosshybridize to a number of chromosomes, while the proximal sequences are unique for 22q. The unique sequence cosmid was used as a 22qter-specific probe for fluorescence in situ hybridization (FISH) analysis, which confirmed that this cosmid was distal to the most telomeric marker previously available for chromosome 22. In addition, this cosmid was used to document a 22q terminal deletion that was not detectable by conventional cytogenetic analysis. Unique telomere-specific FISH probes such as this one will have significant diagnostic value in the detection of cryptic deletions and translocations in patients with unexplained mental retardation and other patient populations.

Cerebroside-Sulfatase↗
PubMed2005

Cytogenetic abnormalities in hepatoblastoma: report of two new cases and review of the literature suggesting imbalance of chromosomal regions on chromosomes 1, 4, and 12.

Two cases of hepatoblastoma with unique karyotypic changes are described. One case was that of a 2-year-old boy with an unbalanced chromosomal translocation involving 4q35 as the sole chromosomal abnormality. The clonal karyotype of this tumor was 46,XY,add(4)(q35)[3]/46,XY[9]. In the other case, that of a 2-year-old boy, karyotypic analyses revealed the clonal karyotype as 57,XY,+del(1)(p22),+2,+5,+6,+7,+8,+del(12)(p12),+18,+19,+20,+22[4]/46,XY[12]. Review of these two cases, together with previous reports, underscored the significance of numerical and/or structural chromosomal abnormalities of 1q, 4q, 2, 8, and 20 in the development of hepatoblastoma. The present results show that imbalance of the terminal region of 4q could be the sole chromosomal abnormality in a hepatoblastoma. We also found that imbalance of chromosomal regions on chromosomes 1 and 12 may contribute to the development of hepatoblastoma.

Aneuploidy↗
PubMed1992

Fluorescent in situ hybridization: use of whole chromosome paint probes to identify unbalanced chromosome translocations.

By identifying structural chromosome anomalies, the clinical cytogenetics laboratory can play a critical role in the diagnosis and treatment of patients with birth defects. Although many new staining techniques have been developed throughout the years to aid in the detection of anomalous chromosomes, some abnormalities still pose a special challenge to cytogeneticists. This difficulty is especially evident in patients with an abnormal chromosome that does not produce a recognizable banding pattern by conventional staining techniques. We describe a recently discovered method of identifying chromosomes by using whole chromosome-specific DNA probes and fluorescent in situ hybridization and provide examples of how this new procedure facilitated the identification of chromosome abnormalities in two patients with multiple birth defects.

Adult↗
PubMed1998

Detection of chromosome 6 abnormalities in melanoma cell lines by chromosome arm painting probes.

Chromosome 6 abnormalities, particularly the deletion of 6q, are among the most frequent chromosomal changes in human malignant melanoma. In this study, chromosome 6 rearrangements in 21 melanoma cell lines were identified by fluorescence in situ hybridization (FISH) with the use of chromosome 6 arm specific painting probes (CAPs). Structural abnormalities of chromosome 6 were detectable in 18 of 21 (86%) cases, including the identification of structural abnormalities that were not detectable by routine G-banding analysis. The results of this study correlate the frequency of 6q alterations and demonstrate that FISH with CAPs can be of considerable use for rapid screening of specific chromosome abnormalities in melanoma.

Chromosome Aberrations↗
PubMed1994

Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe.

Particular regions of the X and Y chromosomes share DNA sequence homology to the extent that cross hybridisation occurs. Thus, chromosome painting with a whole Y chromosome probe consistently results in fluorescence on specific regions of the X chromosome as well as the complete Y chromosome. This phenomenon has been exploited to elucidate the structure of unusual X chromosome rearrangements, without Y involvement, in two females.

Adult↗
PubMed1988

The effect of restriction enzyme digestion of human metaphase chromosomes on C-band variants of chromosomes 1 and 9.

Human metaphase chromosomes, fixed on slides, have beent treated with 8 different restriction endonucleases and 29 combinations of 2 restriction enzymes prior to staining with Giemsa. The endonucleases AluI and DdeI and the combinations AluI + DdeI, AluI + HaeIII, AluI + HinfI, and AluI + MboI have then been used to digest metaphase chromosomes of nine individuals with C-band variants of chromosomes 1 or 9, obtained by the CBG technique. The restriction enzyme resistant chromatin of the paracentromeric regions of chromosomes 1 and 9 has been measured and compared with the corresponding CBG-bands. The size of the enzyme resistant chromatin regions depend upon the type of enzyme(s) used. Treatment with AluI + MboI was the only digestion that acted differently on different chromosome pairs. However, within one pair of homologous chromosomes, all digestions revealed the same variations as conventional C-banding.

Chromosome Banding↗
PubMed2005

Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2.

Intrachromosomal duplications play a significant role in human genome pathology and evolution. To better understand the molecular basis of evolutionary chromosome rearrangements, we performed molecular cytogenetic and sequence analyses of the breakpoint region that distinguishes human chromosome 3p12.3 and orangutan chromosome 2. FISH with region-specific BAC clones demonstrated that the breakpoint-flanking sequences are duplicated intrachromosomally on orangutan 2 and human 3q21 as well as at many pericentromeric and subtelomeric sites throughout the genomes. Breakage and rearrangement of the human 3p12.3-homologous region in the orangutan lineage were associated with a partial loss of duplicated sequences in the breakpoint region. Consistent with our FISH mapping results, computational analysis of the human chromosome 3 genomic sequence revealed three 3p12.3-paralogous sequence blocks on human chromosome 3q21 and smaller blocks on the short arm end 3p26-->p25. This is consistent with the view that sequences from an ancestral site at 3q21 were duplicated at 3p12.3 in a common ancestor of orangutan and humans. Our results show that evolutionary chromosome rearrangements are associated with microduplications and microdeletions, contributing to the DNA differences between closely related species.

Animals↗
PubMed2006

Heteromorphic sex chromosome system with an exceptionally large Y chromosome in a catfish Steindachneridion sp. (Pimelodidae).

The chromosomes and banding patterns of Steindachneridion sp., a large catfish (Pimelodidae), endemic to the Iguaçu River, Brazil, were analyzed using conventional (C-, G-banding) and restriction enzyme banding methods. The same diploid number (2n = 56) as in other members of the genus and the family was found but the karyotype displayed an XX/XY sex chromosome system. The X chromosome was the smallest submetacentric, while the Y was the largest chromosome in the karyotype. Meiotic analysis showed 27 autosomal bivalents plus one heteromorphic XY bivalent during spermatogenesis. Sex chromosomes had no particular pattern after C-banding but G- and restriction enzyme bandings showed specific banding characteristics. The present finding represents the first report of a well-differentiated and uncommon sex chromosome system in the catfish family Pimelodidae.

Animals↗
PubMed1990

Localization on pig chromosome 6 of markers GPI, APOE, and ENO1, carried by human chromosomes 1 and 19, using in situ hybridization.

In the pig, the linkage group around the halothane gene (HAL), composed of S-GPI-HAL-H-A1BG-PGD, has been assigned to bands p1.2----q2.2 of chromosome 6. In man, ENO1-PGD and APOE-GPI constitute two syntenic groups situated on different chromosomes (1 and 19, respectively). Since GPI and PGD are linked in the pig, we have hybridized the human cDNA probes for ENO1 and APOE to pig chromosomes. These markers were assigned to pig chromosome 6, in the q2.2----q2.4 and cen----q2.1 regions, respectively, using in situ hybridization. Since GPI and APOE are situated in the same region, we combined the use of high resolution chromosome analysis and in situ hybridization to give a more precise localization in the q1.2 and q1.2----q2.1.2 regions of chromosome 6. A possible linear order of these genes is proposed.

Animals↗
PubMed2001

A case with balanced chromosome rearrangement involving chromosomes 9, 14, and 13 in a woman with recurrent abortion.

A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding technique. The husband's karyotype was normal. The wife's karyotype showed a balanced complex chromosome rearrangement (CCR) involving chromosomes 9, 14, and 13. There were three breakpoints: 9p21.2, 14q21, and 13q12.2. The karyotype was designated as 46, XX, t (9;14;13)(p21.2;q21;q12.2). Fluorescence in situ hybridization (FISH) analysis with chromosome-specific libraries of chromosomes 9, 14, and 13 was performed to confirm this rare chromosome rearrangement. The result of FISH coincided with that obtained by standard cytogenetic techniques.

Abortion, Habitual↗
PubMed1992

Allelic losses at chromosome 17p in human renal cell carcinoma are inversely related to allelic losses at chromosome 3p.

Recent studies have demonstrated that allelic losses at chromosome 17p are associated with the genesis of a wide variety of human cancers. In order to assess whether the rearrangement of chromosome 17p was responsible for the genesis of renal cell carcinoma (RCC), we used restriction fragment length polymorphism analysis of chromosome 17p. We studied 48 RCCs, including 6 metastatic RCCs, from 43 patients with 5 polymorphic probes to loci within or near the p53 gene. Allelic losses at chromosome 17p were detected in only 6 of the 36 informative cases (17%), and no definitive correlation was demonstrated between allelic losses at 17p and the tumor stages. The 6 RCCs with allelic losses at 17p were histopathologically classified as a clear cell type in one, a mixed cell type in one, and granular cell types in the other four cases. Allelic losses at 17p in the clear cell type of RCC were infrequent (6%, 1 of 18), and were not detected even in the metastatic tumor from a highly advanced case. This finding suggests that allelic losses at 17p could be random genetic rearrangements in the case of the clear cell type of RCC. On the other hand, allelic losses at 17p in the granular cell type of RCC were demonstrated with a significantly higher frequency (44%, 4 of 9). We previously reported that allelic losses at 3p were specific to the clear cell type of RCC (Ogawa et al., Cancer Res., 51:949-953, 1991). Examination of the association of allelic losses at 17p with those at 3p revealed that none of 5 informative RCCs with allelic losses at 17p showed allelic losses at 3p. Conversely, 17 of 25 informative RCCs with retention of 17p alleles lost alleles at 3p. Thus, an inverse relationship was demonstrated with statistical significance (P less than 0.01). These data suggest that the types of rearrangement on chromosome 17p and/or chromosome 3p can differentiate between the histopathological subtypes of RCC.

Alleles↗
PubMed2006

De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.

Congenital Complex Chromosome rearrangements (CCRs) compatible with life are rare in humans. We report a de novo CCR involving chromosomes 8, 11 and 16 with 4 breakpoints in a patient with mild dysmorphic features, acquisition delay and psychotic disorder. Conventional cytogenetic analysis revealed an apparently balanced 8;16 translocation. Further FISH analysis with WCP 8 and WCP 16 probes revealed the presence of a third chromosome involved in the translocation. The multicolour karyotype confirmed the complexity of the rearrangement and showed that the derivative chromosome 8 was composed of 3 distinct segments derived from chromosomes 8, 16 and 11. The breakpoints of this complex rearrangement were located at 8q21, 11q14, 11q23 and 16q12. Comparative genomic hybridization (CGH) and array-CGH were performed to investigate the possibility of any genomic imbalance as a result of the complex rearrangement. No imbalance was detected by these two techniques. Our study showed: i) the necessity to confirm reciprocal translocations with FISH using painting probes, particularly when the karyotype resolution is weak; ii) the usefulness of multicolour karyotype for the characterization of structural chromosomal rearrangements, particularly when they are complex; iii) the usefulness of CGH and array-CGH in cases of abnormal phenotype and apparently balanced rearrangement in order to explore the breakpoints and to detect additional imbalances.

Child↗
PubMed1989

[Monosomy 5 (-5), deletion of the long arm of chromosome 6 (6q) and acquisition of a chromosome 21 (+21) in a boy with acute leukemia at high-risk].

The chromosomal abnormality 6q-, associated with acute lymphatic leukemia, is often found both in T cell form and in non T non B cell forms. The absence of chromosome -5, frequently associated with acute non-lymphatic leukemia of the adult, has been rarely found in the acute non-lymphatic leukemia of the child. Trisomy of chromosome 21 is the most associated with acute non-lymphatic leukemia of the adult, has been rarely found in the acute non-lymphatic leukemia of the child. Trisomy of chromosome 21 is the most frequent alteration found in children and adult with acute lymphatic leukemia. In a child (aged 7) affected by acute lymphatic leukemia the karyotype analysis showed simultaneously the presence of the 3 above mentioned abnormalities. It will be important to evaluate later on how the association of monosomy 5 with the deletion of chromosome's 6 long arm and with an acquired chromosome 21, the last two being indexes of a favourable prognosis, can influence the clinical course of the disease.

Child↗