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Garden asparagus (Asparagus officinalis, 2n = 2x = 20 chromosomes) is an important dioecious vegetable crop and a model species for studying sex chromosome formation and evolution. However, few molecular cytogenetic studies on garden asparagus have been reported because of its small metaphase chromosomes, the scarcity of distinguished cytogenetic markers, and the high content of repetitive sequences. In this study, a set of single copy genes free of repetitive sequences with sizes ranging from 4.3 kb to 8.2 kb were screened and used as probes for fluorescence in situ hybridization (FISH) to identify individual chromosomes of garden asparagus. The chromosomespecific signal distribution patterns of these probes enabled the distinguishment of each pair of chromosomes. The sequence assembly and cytogenetic map were successfully integrated, and the results confirmed that the chromosome 1 representing the sex chromosome in the genome assembly is chromosome 5 in the karyotype analysis. The cytogenetic identification of the male-specific region of the Y chromosome (MSY) was implemented using a mixed probe derived from a number of MSY-specific single copy sequences. In addition, the chromosome orthologous relationship between garden asparagus (A1--A10, karyotypic analysis) and its hermaphrodite close relative, A. setaceus (B1--B10, karyotypic analysis), was analyzed using this collection of chromosome-specific cytological markers. The results showed that B3 is the ortholog of sex chromosome A5 and thus may represent the ancestral autosome of the current sex chromosome in garden asparagus. Chromosomes B5, B4, B1, B8, B7, and B9 are the orthologs of A2, A3, A4, A7, A8, and A10, respectively. The chromosome identification, cytogenetic recognition of MSY, and the orthologous relationship analysis between garden asparagus and A. setaceus are valuable for the further investigation of the sex chromosome emergence and evolutionary mechanism of garden asparagus and genome structure evolution in the Asparagus genus. [ABSTRACT FROM AUTHOR]

The expedience of using oocytes with morphological dysmorphism in assisted reproduction technology programs is debatable. This study aimed to estimate morphological and molecular cytogenetic characteristics of enlarged oocytes and to predict results of their further fertilization. Among 774 oocytes retrieved from 80 patients, 83 (11%) cells were enlarged. Morphometric analysis showed the diameter of the ooplasm to be (176.67 ± 1.76) μm and the diameter with ZP (200.8 ± 4.24) μm. Among these giant oocytes, 47 (56.6%) were at the metaphase II stage, 26 (31.3%) at the metaphase I stage, and 10 (12.1%) at the prophase I stage. The retrieved giant oocytes were characterized by dysmorphism of endo- and exocytoplasmic structures. Among 47 cells at the metaphase II stage, 40 (85.1%) oocytes had two polar bodies, three (6.4%) oocytes had one polar body, and four (8.5%) oocytes had a fragmented polar body. The assessment of the presence of meiotic spindle by polarization microscopy showed that 39 (83%) oocytes had two meiotic spindles, 3 (6.4%) oocytes had one meiotic spindle, and 5 oocytes (10.6%) had no visualized meiotic spindles despite the presence of polar bodies. After fertilization of 47 oocytes at the metaphase II stage, pronuclei were detected in 42 (89.4%) cells, including 9 (21.4%) oocytes with two pronuclei, 27 (63.3%) oocytes with 3 pronuclei, and 6 (15.3%) oocytes with four pronuclei. The molecular cytogenetic analysis demonstrated that the embryos obtained after fertilization of giant oocytes had a polyploid chromosome set number. Thus, the results of our study showed the inexpediency of using giant oocytes for further fertilization. [ABSTRACT FROM AUTHOR]

Perennial wheat is considered to be a practical way to increase the flexibility and profitability of sustainable agricultural system, as it can be either a forage grass or a grain crop. Four perennial wheat lines SX12-480, SX12-787, SX12-1150, and SX12-1269 were developed from a series of interspecific crosses between common wheat (Triticum aestivum, 2n = 42) or durum wheat (T. turgidum var. durum, 2n = 28) and the intermediate wheatgrass (Thinopyrum intermedium, 2n = 42). These lines were characterized by the vigorous regrowth for at least 3 years. The one- and 2-year-old plants had higher grain yield potential than the 3-year-old perennial plants. The decline of grain yield was associated with plant age-related effects on yield components. The perennial wheat lines were all resistant to both Heterodera avenae and H. filipjevi, the two distinct cereal cyst nematode species that occur in China, except that line SX12-787 exhibited moderate resistance only to H. avenae. The dual-purpose perennial wheat lines were evaluated for quality values of both defoliated grass and harvested grains in the form of amino acid profile, mineral concentration, and contents of protein and fiber. Difference in the quality profile was observed between the perennial lines. These perennial lines had an overall improved quality levels over those of the perennial wheat control Montana-2 (T. turgidum × Th. intermedium) and the annual wheat cultivar Jinchun 9. The amplification profiles of the molecular markers provided molecular evidence for the introgression of alien chromatin. Genomic in situ hybridization detected 16, 14, 14, and 12 Th. intermedium chromosomes in lines SX12-480 (2n = 48), SX12-787 (2n = 56), SX12-1150 (2n = 56), and SX12-1269 (2n = 54), respectively, in addition to either 32 or the complete set of wheat chromosomes. The four perennial wheat-Th. intermedium lines described here provide valuable sources of perennial wheat for the dual-purpose application of both grain and forage.

Perennial wheat is considered to be a practical way to increase the flexibility and profitability of sustainable agricultural system, as it can be either a forage grass or a grain crop. Four perennial wheat lines SX12-480, SX12-787, SX12-1150, and SX12-1269 were developed from a series of interspecific crosses between common wheat (Triticum aestivum , 2n = 42) or durum wheat (T. turgidum var. durum , 2n = 28) and the intermediate wheatgrass (Thinopyrum intermedium , 2n = 42). These lines were characterized by the vigorous regrowth for at least 3 years. The one- and 2-year-old plants had higher grain yield potential than the 3-year-old perennial plants. The decline of grain yield was associated with plant age-related effects on yield components. The perennial wheat lines were all resistant to both Heterodera avenae and H. filipjevi , the two distinct cereal cyst nematode species that occur in China, except that line SX12-787 exhibited moderate resistance only to H. avenae. The dual-purpose perennial wheat lines were evaluated for quality values of both defoliated grass and harvested grains in the form of amino acid profile, mineral concentration, and contents of protein and fiber. Difference in the quality profile was observed between the perennial lines. These perennial lines had an overall improved quality levels over those of the perennial wheat control Montana-2 (T. turgidum × Th. intermedium) and the annual wheat cultivar Jinchun 9. The amplification profiles of the molecular markers provided molecular evidence for the introgression of alien chromatin. Genomic in situ hybridization detected 16, 14, 14, and 12 Th. intermedium chromosomes in lines SX12-480 (2n = 48), SX12-787 (2n = 56), SX12-1150 (2n = 56), and SX12-1269 (2n = 54), respectively, in addition to either 32 or the complete set of wheat chromosomes. The four perennial wheat- Th. intermedium lines described here provide valuable sources of perennial wheat for the dual-purpose application of both grain and forage. [ABSTRACT FROM AUTHOR]

Isodicentric Y chromosomes are considered one of the most common structural abnormalities of the Y chromosome. Neocentric marker chromosomes, with neocentromeres, have drawn increasing attention in recent years. The present study reported an azoospermic male with a neocentric isochromosome Yp, neo(Yp), and an isodicentric Yq, idic(Yq). The karyotype was analyzed using G-banding, chromosome microarray analysis (CMA), and fluorescence in situ hybridization (FISH) with various detection probes, including sex-determining region on the Y chromosome (SRY) and Y centromeric, applied at the same time. G-banding initially revealed the karyotype 47,X,i(Y)(q10),+mar. CMA indicated the presence of an extra Y chromosome, seemingly equivalent to 47,XYY males. FISH delineated the existence of two centromeres on the idic(Yq). For the marker chromosome, two SRY signals were detected instead of the Y-specific centromere signal, and a visual centromere was observed. This indicated the possible existence of a neocentromere in the marker chromosome, located in the connected region in Yp11.2 band. Finally, the patient's karyotype was established as 47,X,idic(Y)(p11.2), neo(Y)(pter→Yp11.2::Yp11.2→pter). The findings suggested that both idic(Yq) and neo(Yp) could be the main causes of the patient's azoospermia, despite the fact that the partial disomy of Ypter to Yp11.2 did not lead to any major malformations. The present study not only improves the understanding of karyotype/phenotype relationships between neocentric marker Y chromosomes and male infertility, but also supports the hypothesis that the combined application of molecular cytogenetic analysis could aid in reliably confirming breakpoints, origins, and the constitution of the marker chromosomes. [ABSTRACT FROM AUTHOR]

Wild Cucumis species have been divided into Australian/Asian and African groups using morphological and phylogenetic characteristics, and new species have been described recently. No molecular cytogenetic information is available for most of these species. The crossability between 5 southern African Cucumis species (C. africanus, C. anguria, C. myriocarpus, C. zeyheri, and C. heptadactylus) has been reported; however, the evolutionary relationship among them is still unclear. Here, a molecular cytogenetic analysis using FISH with 5S and 45S ribosomal DNA (rDNA) was used to investigate these Cucumis species based on sets of rDNA-bearing chromosomes (rch) types I, II and III. The molecular cytogenetic and phylogenetic results suggested that at least 2 steps of chromosomal rearrangements may have occurred during the evolution of tetraploid C. heptadactylus. In step 1, an additional 45S rDNA site was observed in the chromosome (type III). In particular, C. myriocarpus had a variety of rch sets. Our results suggest that chromosomal rearrangements may have occurred in the 45S rDNA sites. We propose that polyploid evolution occurred in step 2. This study provides insights into the chromosomal characteristics of African Cucumis species and contributes to the understanding of chromosomal evolution in this genus. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

OBJECTIVES. Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis. METHODS. Between March 2006 and September 2007, 638 neonates with various birth defects were referred for chromosomal microarray analysis. Three consecutive chromosomal microarray analysis versions were used: bacterial artificial chromosomebased versions V5 and V6 and bacterial artificial chromosome emulated oligonucleotide-based version V6 Oligo. Each version had targeted but increasingly extensive genomic coverage and interrogated >150 disease loci with enhanced coverage in genomic rearrangement-prone pericentromeric and subtelomeric regions. RESULTS. Overall, 109 (17.1%) patients were identified with clinically significant abnormalities with detection rates of 13.7%, 16.6%, and 19.9% on VS. V6, and V6 Oligo, respectively. The majority of these abnormalities would not be defined by using karyotype analysis. The clinically significant detection rates by use of chromosomal microarray analysis for various clinical indications were 66.7% for "possible chromosomal abnormality" ± "others" (other clinical indications), 33.3% for ambiguous genitalia ± others, 27.1% for dysmorphic features + multiple congenital anomalies ± others, 24.6% for dysmorphic features ± others, 2 1.8% for congenital heart disease ± others, 17.9% for multiple congenital anomalies ± others, and 9.5% for the patients referred for others that were different from the groups defined. In all, 16 (2.5%) patients had chromosomal aneuploidies, and 81 (12.7%) patients had segmental aneusomies including common microdeletion or microduplication syndromes and other genomic disorders. Chromosomal mosaicism was found in 12 (1.9%) neonates. CONCLUSIONS. Chromosomal microarray analysis is a valuable clinical diagnostic tool that allows precise and rapid identification of genomic imbalances and mosaic abnormalities as the cause of birth defects in neonates. Chromosomal microarray analysis allows for timely molecular diagnoses and detects many more clinically relevant genomic abnormalities than conventional cytogenetic studies, enabling more informed decision-making and management and appropriate assessment of recurrence risk. [ABSTRACT FROM AUTHOR]

In patients with hematological malignancies one of the most substantial findings is the karyotype of bone marrow cells at the time of diagnosis. The detection of clonal chromosome aberrations in diagnostic samples not only confirms a neoplastic or premalignant process but also provides important diagnostic and prognostic information essential for precise disease classification and choice of suitable therapy. Karyotype analysis during the disease course also allows monitoring of the treatment success reflected as well in the revised WHO classification where patients are often classified into the different diagnostic subtypes based on the finding of specific chromosome and/or genetic changes. Recently, also increases the number of advanced treatment approaches that directly or indirectly target the genetic aberrations present in tumor cells. Despite the large development of new sequencing technologies in recent years, cytogenetic analysis supplemented by the molecular cytogenetic methods still remains a very important part of diagnostics of hematological malignancies.