Pericentric inversion of chromosome 2 and echogenic vasculature in the basal ganglia: A new finding?

2005 ◽  
Vol 33 (3) ◽  
pp. 146-148
Author(s):  
Marco Pezzati ◽  
Maria Luisa Uzielli Giovannucci ◽  
Luca Filippi ◽  
Carlo Dani ◽  
Firmino F. Rubaltelli
Keyword(s):  
Basal Ganglia ◽  
Pericentric Inversion ◽  
Chromosome 2 ◽  
New Finding

scholarly journals Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: Case report

2005 ◽  
Vol 20 (9) ◽  
pp. 2552-2555 ◽  
Author(s):  
Sanja Vujisic ◽  
Feodora Stipoljev ◽  
Renato Bauman ◽  
Romana Dmitrovic ◽  
Davor Jezek
Keyword(s):  
Case Report ◽  
Pericentric Inversion ◽  
Chromosome 2 ◽  
Empty Follicle Syndrome

Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes?

2009 ◽  
Vol 92 (4) ◽  
pp. 1497.e1-1497.e4 ◽  
Author(s):  
Fatma Ferfouri ◽  
Patrice Clement ◽  
Denise Molina Gomes ◽  
Marie Minz ◽  
Edouard Amar ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 2 ◽  
Increased Risk

Genetic variability in Muscari comosum L. (Liliaceae). II. Characterization and effects of the polymorphic variants of chromosome 2 on chiasmata formation

Genome ◽  
1987 ◽  
Vol 29 (5) ◽  
pp. 695-701
Author(s):  
C. Ruiz Rejon ◽  
R. Lozano ◽  
M. Ruiz Rejon
Keyword(s):  
Genetic Variability ◽  
Key Words ◽  
Pericentric Inversion ◽  
Chromosomal Polymorphism ◽  
Chiasma Formation ◽  
The Other ◽  
Chromosome 2 ◽  
Polymorphic Variants ◽  
Insertional Translocation ◽  
Normal Pairing

Muscari comosum L. (Liliaceae) displays a striking chromosomal polymorphism in the second largest chromosome. This polymorphism involves four cosmopolitan types. Two of these are shorter than the other two homologues. One of these is submetacentric (SSM) and the other is subtelocentric (SST). The two longer types also include a submetacentric (LSM) and a subtelocentric (LST) morph. Each of the two submetacentric chromosomes has one interstitial C-band in the short arm and each of the two subtelocentric morphs has an interstitial C-band in the long arm. The change of position of this interstitial C-band is most easily explained by a pericentric inversion. Furthermore, all four types of chromosome 2 have a centromeric C-band, while the two subtelocentrics have an additional terminal C-band in the long arm. The variability in the size of the second chromosome is most likely the consequence of an unequal interchange or an insertional translocation. The meiotic behaviour of the chromosome 2 bivalents in individuals heterozygous for the pericentric inversion is characterized by normal pairing between homologues with no inversion loops, though asynapsis was present in some meiocytes. Chiasmata are absent in two regions of chromosome 2 bivalents in these heterozygotes in which they regularly form in both classes of homozygotes. In individuals heterozygous for the long morphs of chromosome 2 the bivalents again showed normal pairing at pachytene, with chiasmata again absent in some regions in which they normally form. The net result is that homozygotes have significantly higher chiasmata frequencies than hterozygotes. Key words: genetic variability, chiasma formation, Muscari.

Pilot Study of the Incidence of Constitutional Chromosomal Abnormalities in a Community Clinic Setting

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4913-4913
Author(s):  
Yi Kong Keung ◽  
Lap-Ching Keung ◽  
Annie Yeung ◽  
Eddie H Hu
Keyword(s):  
Bone Marrow ◽  
Pilot Study ◽  
Pericentric Inversion ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Examination ◽  
Small Sample ◽  
Chromosome 9 ◽  
High Dose ◽  
Chromosome 2 ◽  
Normal Finding

Abstract Abstract 4913 BACKGROUND: Constitutional chromosomal abnormalities in apparently normal individuals have shown a rise in incidence possibly because of improved banding techniques. Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in approximately 0.8%–2% of the normal population (Hsu et al. Am J Med Genet 1987, Tawn et al. Mutat Res 1992) and is generally regarded as a normal variant, as is constitutional pericentric inversion of chromosome 2 [inv(2)] (Hysert et al. Prenat Diagn 2006). However, both inversions have been implicated with infertility, recurrent spontaneous abortion, as well as myeloid leukemias (Daya. Curr Opin Obstet Gynecol 1994, Mozziconacci et al. Cancer Genet Cytogenet 1998). Inv(9) has also been implicated in causing delayed engraftment after autologous and allogeneic transplantation from donors with inv(9), though not without controversy (Keung et al. Br J Haematol 2003, Lee et al. Ann Clin Lab Sci 2010). Most of these studies were conducted among patients with leukemia and/or transplantation. To investigate the constitutional chromosomal abnormalities in a more community-like setting, we conducted a pilot study of the incidence of constitutional chromosomal abnormalities in our clinic. METHODS: Between January 2010 and June 2011, 248 consecutive patients, 132 males and 116 females, median age of 68.6 (range 20.5–89.5) underwent bone marrow examination for various indications at our clinic. Of these patients, 181 underwent one or more cytogenetic analysis. We then reviewed clinical charts. RESULTS: A total of 274 bone marrow examinations were performed. Of the 274 bone marrow examinations, 199 conventional karyotypes were also obtained. Three patients (1.7%) with constitutional chromosomal abnormalities were found: two had pericentric inversion of chromosome 9, inv(9)(p12q13)c, and one had pericentric inversion of chromosome 2, inv(2)(p11.2q13)c. Case 1. A 48-year old male presented with cryptococcal meningitis, absolute CD4 count of 3/μL and CD8 count 4/μL. He was treated successfully with high dose fluconazole. Subsequent workup suggested a diagnosis of idiopathic non-HIV CD4 lymphocytopenia (Smith et al N Engl J Med 1993). Bone marrow examination showed normal finding and no evidence of lymphoma, with 46,XY,inv(9)(p12q13)c[20]. Case 2. A 66-year old female presented with asymptomatic leukocytopenia for 6 years, WBC 3,100-3,900/μL with normal hemoglobin and platelet. Bone marrow examination showed normal finding, with 46,XX,inv(9)(p12q13)c[20]. Case 3. A 69-year old male presented with asymptomatic lymphocytosis, WBC 17,800/μL, Hgb 13.5 g/dL, platelet 227,000/μL, with neutrophils 27%, lymphocytes 68%, and monocytes 4%. Bone marrow examination diagnosed chronic lymphocytic leukemia, CD5+, CD19+ and CD23+, with 49,XY,inv(2)(p11.2q13), +12,+18,+19[2]/46,XY, inv(2)(p11.2q13)c[18]. CONCLUSION: The incidence of constitutional chromosomal abnormalities is estimated to be 1.7% in this pilot study, which is similar to the reported literature. The occurrence of constitutional abnormalities in our patients may simply be coincidental. However, due to small sample size, a larger study is required to confirm this finding. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Banding cytogenetics of chimeric hybrids Coturnix coturnix × Coturnix japonica and comparative analysis with the domestic fowl

2018 ◽  
Vol 12 (4) ◽  
pp. 445-470
Author(s):  
Yasmine Kartout-Benmessaoud ◽  
Kafia Ladjali-Mohammedi
Keyword(s):  
Japanese Quail ◽  
Pericentric Inversion ◽  
Cytogenetic Study ◽  
Chromosome 8 ◽  
Chromosome 1 ◽  
Genetic Introgression ◽  
Chromosome 2 ◽  
Coturnix Coturnix ◽  
The Common ◽  
Common Quail

The Common quail Coturnixcoturnix Linnaeus, 1758 is a wild migratory bird which is distributed in Eurasia and North Africa, everywhere with an accelerating decline in population size. This species is protected by the Bonn and Berne conventions (1979) and by annex II/1 of the Birds Directive (2009). In Algeria, its breeding took place at the hunting centre in the west of the country. Breeding errors caused uncontrolled crosses between the Common quail and Japanese quail Coturnixjaponica Temminck & Schlegel, 1849. In order to help to preserve the natural genetic heritage of the Common quail and to lift the ambiguity among the populations of quail raised in Algeria, it seemed essential to begin to describe the chromosomes of this species in the country since no cytogenetic study has been reported to date. Fibroblast cultures from embryo and adult animal were initiated. Double synchronization with excess thymidine allowed us to obtain high resolution chromosomes blocked at prometaphase stage. The karyotype and the idiogram in GTG morphological banding (G-bands obtained with trypsin and Giemsa) corresponding to larger chromosomes 1–12 and ZW pair were thus established. The diploid set of chromosomes was estimated as 2N=78. Cytogenetic analysis of expected hybrid animals revealed the presence of a genetic introgression and cellular chimerism. This technique is effective in distinguishing the two quail taxa. Furthermore, the comparative chromosomal analysis of the two quails and domestic chicken Gallusgallusdomesticus Linnaeus, 1758 has been conducted. Differences in morphology and/or GTG band motifs were observed on 1, 2, 4, 7, 8 and W chromosomes. Neocentromere occurrence was suggested for Common quail chromosome 1 and Chicken chromosomes 4 and W. Double pericentric inversion was observed on the Common quail chromosome 2 while pericentric inversion hypothesis was proposed for Chicken chromosome 8. A deletion on the short arm of the Common quail chromosome 7 was also found. These results suggest that Common quail would be a chromosomally intermediate species between Chicken and Japanese quail. The appearance of only a few intrachromosomal rearrangements that occurred during evolution suggests that the organization of the genome is highly conserved between these three galliform species.

Pericentric inversion in chromosome 2 without phenotypic effect

1986 ◽  
Vol 1 (3) ◽  
pp. 281-283
Author(s):  
L. Lamberti ◽  
E. Rabino Massa ◽  
D. Romagno ◽  
R. Stanyon
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 2 ◽  
Phenotypic Effect

CHROMOSOMAL POLYMORPHISM COMMON TO SEVERAL SPECIES OF JUNCO (AVES)

1973 ◽  
Vol 15 (3) ◽  
pp. 461-471 ◽  
Author(s):  
Gerald F. Shields
Keyword(s):  
Random Sample ◽  
Pericentric Inversion ◽  
Chromosomal Polymorphism ◽  
Junco Hyemalis ◽  
Chromosome 2 ◽  
Chromosome 5 ◽  
Weinberg Equilibrium ◽  
Mating Population ◽  
Hardy Weinberg Equilibrium

Karyotypes were obtained from primary kidney cultures of nearly 250 individuals belonging to six nominate species of the avian genus Junco. Chromosome 2 was found to be dimorphic in four of the six species and chromosome 5 was dimorphic in five of the six species. The dimorphism appears to be due to the presence of a pericentric inversion in each of these autosomes. It is hypothesized that chromosomes 2 and 5 are ancestral and gave rise to chromosomes 2sm and 5m respectively. The sample of the slate-colored junco, Junco hyemalis, the largest studied, conforms to the Hardy-Weinberg equilibrium and suggests that a random sample was drawn from a randomly mating population.

Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11←q13) segment of chromosome 2

2008 ◽  
Vol 18 (6) ◽  
pp. 402-407 ◽  
Author(s):  
Carlo Baccichetti ◽  
Elisabetta Lenzini ◽  
Andrea Pesericoi ◽  
Romano Tenconi
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 2
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