scholarly journals Rieger's syndrome with pericentric inversion of chromosome 6.

1979 ◽  
Vol 63 (1) ◽  
pp. 40-44 ◽  
Author(s):  
M H Heinemann ◽  
R Breg ◽  
E Cotlier
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 6

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations

1991 ◽  
Vol 39 (1) ◽  
pp. 102-105 ◽  
Author(s):  
Katharine D. Wenstrom ◽  
Ann C. Muilenburg ◽  
Shivanand R. Patil ◽  
James W. Hanson
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 6 ◽  
Three Generations

Acute myeloblastic leukemia with a pericentric inversion of chromosome 6 in a child with down syndrome

1994 ◽  
Vol 73 (2) ◽  
pp. 157-160 ◽  
Author(s):  
Sofia Shekhter-Levin ◽  
Joseph Mirro ◽  
Lila Penchansky ◽  
Maureen E. Sherer ◽  
Niel Wald ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pericentric Inversion ◽  
Acute Myeloblastic Leukemia ◽  
Chromosome 6

Prenatal diagnostics in carrier of pericentric inversion of the chromosome 6

2020 ◽  
Author(s):  
E.I. Golovataya , T.A. Plevako , D.A. Mykytenko
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Pericentric Inversion ◽  
Prenatal Diagnostics ◽  
Published Data ◽  
Chromosome 6 ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Cytogenetic Studies

Two cases with different recombinant chromosomes associated with a paternal pericentric inversion inv(6) (p25q25.3) are presented. The data of ultrasound and cytogenetic studies, as well as the results of preimplantation genetic testing of embryos obtained in in vitro fertilization cycles are presented. Based on our own and published data, the possibility of the appearance of recombinant chromosomes in the progeny of inv(6)(p25q25.3) carrier is discussed.

Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6

2008 ◽  
Vol 18 (1) ◽  
pp. 83-87 ◽  
Author(s):  
Richard J. Schroer ◽  
Donna M. Culp ◽  
Roger E. Stevenson ◽  
William E. Potts ◽  
Harold A. Taylor ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Deletion Syndrome ◽  
Chromosome 6

Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia

1993 ◽  
Vol 46 (6) ◽  
pp. 630-631 ◽  
Author(s):  
H. Nienhaus ◽  
U. Mau ◽  
K. D. Zang ◽  
W. Henn
Keyword(s):  
Pericentric Inversion ◽  
Cleidocranial Dysplasia ◽  
Chromosome 6

Heterologous Synapsis and Crossover Suppression in Heterozygotes for a Pericentric Inversion in the Zebra Finch

2015 ◽  
Vol 147 (2-3) ◽  
pp. 154-160 ◽  
Author(s):  
Lucía del Priore ◽  
María I. Pigozzi
Keyword(s):  
Zebra Finch ◽  
Pericentric Inversion ◽  
Crossing Over ◽  
Complete Suppression ◽  
Chromosome 6 ◽  
Karyotypic Evolution ◽  
Male And Female ◽  
Synaptonemal Complexes ◽  
Pericentric Inversions ◽  
Mlh1 Foci

In the zebra finch, 2 alternative morphs regarding centromere position were described for chromosome 6. This polymorphism was interpreted to be the result of a pericentric inversion, but other causes of the centromere repositioning were not ruled out. We used immunofluorescence localization to examine the distribution of MLH1 foci on synaptonemal complexes to test the prediction that pericentric inversions cause synaptic irregularities and/or crossover suppression in heterozygotes. We found complete suppression of crossing over in the region involved in the rearrangement in male and female heterozygotes. In contrast, the same region showed high levels of crossing over in homozygotes for the acrocentric form of this chromosome. No inversion loops or synaptic irregularities were detected along bivalent 6 in heterozygotes suggesting that heterologous pairing is achieved during zygotene or early pachytene. Altogether these findings strongly indicate that the polymorphic chromosome 6 originated by a pericentric inversion. Since inversions are common rearrangements in karyotypic evolution in birds, it seems likely that early heterologous pairing could help to fix these rearrangements, preventing crossing overs in heterozygotes and their deleterious effects on fertility.

Deletion mapping on chromosome 6 in colorectal cancer associated with ulcerative colitis

2001 ◽  
Vol 120 (5) ◽  
pp. A121-A122
Author(s):  
T EZAKI ◽  
M WATANABE ◽  
S FUNAKOSHI ◽  
M NAGANUMA ◽  
T AZUMA ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Ulcerative Colitis ◽  
Deletion Mapping ◽  
Chromosome 6
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