scholarly journals Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

2018 ◽  
Vol 7 (2) ◽  
pp. e00496 ◽  
Author(s):  
Nehir Edibe Kurtas ◽  
Luciano Xumerle ◽  
Ursula Giussani ◽  
Alessandra Pansa ◽  
Laura Cardarelli ◽  
...  
Keyword(s):  
Insertional Translocation

THE WAXY LOCUS IN MAIZE III. EFFECT OF STRUCTURAL HETEROZYGOSITY ON INTRAGENIC RECOMBINATION AND FLANKING MARKER ASSORTMENT

Genetics ◽  
1975 ◽  
Vol 79 (1) ◽  
pp. 31-44
Author(s):  
Oliver E Nelson
Keyword(s):  
Pericentric Inversion ◽  
Low Frequency ◽  
Chromosome 9 ◽  
Intragenic Recombination ◽  
Structural Rearrangements ◽  
Complex Rearrangement ◽  
Structural Heterozygosity ◽  
Wx Locus ◽  
Waxy Locus ◽  
Insertional Translocation

ABSTRACT The effect of heterozygosity for structural rearrangements on recombination between two wx heteroalleles (C and 90) and the pattern of flanking markers in the resultant Wx gametes has been examined. The rearrangements are Tp9, an insertional translocation in which a segment of chromosome 3 has been inserted into the short arm of chromosome 9 close to the wx locus; In9a, a long pericentric inversion with wx in the inverted segment; and Rearr 9, a complex rearrangement of chromosome 9. Heterozygosity for rearrangements decreases the frequency of Wx gametes to varying degrees.—Heterozygosity for Tp9 enhances the proportion of Wx gametes that are apparent convertants and allows the conclusion that such gametes do not normally arise from an exchange in the wx locus plus a second exchange distal to wx. Heterozygosity for In9a markedly decreases the frequency of Wx gametes that are recombinant for outside markers but does not decrease the frequency of convertants.—Heterozygosity for Rearr 9 permits a low frequency of Wx gametes, all of which are apparent convertants.—A high proportion of the convertants have the flanking markers that entered the cross with C so recombination is polarized in normal homologs and in heterozygotes for all rearrangements.

Familial partial trisomy 5p resulting from segregation of an insertional translocation

2008 ◽  
Vol 33 (6) ◽  
pp. 404-409 ◽  
Author(s):  
Karl-Henrik Gustavson ◽  
Per Olov Lundberg ◽  
Peter Nicol
Keyword(s):  
Partial Trisomy ◽  
Insertional Translocation

Autosomal insertional translocation mimicking an X-linked mode of inheritance

2013 ◽  
Vol 56 (1) ◽  
pp. 46-49 ◽  
Author(s):  
Gaelle Thierry ◽  
Olivier Pichon ◽  
Annaig Briand ◽  
Damien Poulain ◽  
Yves Sznajer ◽  
...  
Keyword(s):  
Mode Of Inheritance ◽  
Insertional Translocation

scholarly journals Genetic analysis of the sexual dimorphism of glass in Drosophila melanogaster

1984 ◽  
Vol 44 (2) ◽  
pp. 125-132 ◽  
Author(s):  
James A. Birchler
Keyword(s):  
Drosophila Melanogaster ◽  
Sexual Dimorphism ◽  
Genetic Analysis ◽  
Phenotypic Expression ◽  
Sexually Dimorphic ◽  
Modifier Locus ◽  
The Third ◽  
Specific Manner ◽  
Gene Maps ◽  
Insertional Translocation

SUMMARYA modifier locus is described that alters the level of phenotypic expression of the third chromosome mutant glass in a sex specific manner. Alternative alleles either confer a sexually dimorphic level of pigment in glass mutants, with the male being greater, or cause similar expression in the two sexes. The alleles are indistinguishable in females but produce the respective phenotypes in males. The gene maps to the tip of the X chromosome at position 0·96 ± 0·11. Cytologically, the locus is present between polytene bands 3A6–8 and 3C2–3 as determined by its inclusion in translocated X segments in w + Y, Dp(l;2)w70h31 and Dp(l;3)w67k27 The dimorphic allele is dominant to the nondimorphic condition in males heterozygous for an insertional translocation carrying the dimorphic allele and a normal chromosome carrying the nondimorphic form. The dimorphic allele in two doses in males does not exhibit a dosage effect. The modifier phenotype is unaffected in two X flies by the presence of the transformer mutation.

A case of insertional translocation resulting in partial trisomy 16p

2000 ◽  
Vol 43 (3-4) ◽  
pp. 131-135 ◽  
Author(s):  
Nadja Kokalj-Vokac ◽  
Igor Medica ◽  
Andreja Zagorac ◽  
Boris Zagradišnik ◽  
Alenka Erjavec ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Insertional Translocation

A case of insertional translocation involving chromosomes 2 and 4

2008 ◽  
Vol 53 (2) ◽  
pp. 142-146 ◽  
Author(s):  
Alexander Asamoah ◽  
Kailas N Nandi ◽  
Leonard Prouty ◽  
Theodore F Thurmon ◽  
Harold Chen
Keyword(s):  
Insertional Translocation

scholarly journals Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal

2015 ◽  
Vol 100 (5) ◽  
pp. E815-E820 ◽  
Author(s):  
Bryan Haines ◽  
James Hughes ◽  
Mark Corbett ◽  
Marie Shaw ◽  
Josie Innes ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Male Sex ◽  
Xx Male ◽  
Insertional Translocation
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