A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q24→1q22 and partial monosomy 4q27→q28

2003 ◽  
Vol 103 (1-2) ◽  
pp. 17-23 ◽  
Author(s):  
U. Grasshoff ◽  
S. Singer ◽  
T. Liehr ◽  
H. Starke ◽  
B. Fode ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Complex Chromosomal Rearrangement ◽  
Fertile Male ◽  
Male Carrier

A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility: Case report

2001 ◽  
Vol 16 (1) ◽  
pp. 59-62 ◽  
Author(s):  
Tao Cai ◽  
Ping Yu ◽  
Danilo A. Tagle ◽  
David Lu ◽  
Yiwang Chen ◽  
...  
Keyword(s):  
Case Report ◽  
Chromosomal Rearrangement ◽  
De Novo ◽  
Complex Chromosomal Rearrangement ◽  
Male Carrier

scholarly journals Complex chromosomal rearrangement leading to partial trisomy 22.

1980 ◽  
Vol 17 (1) ◽  
pp. 66-68 ◽  
Author(s):  
I L Hansteen ◽  
L Schirmer ◽  
S Hestetun ◽  
A Brogger
Keyword(s):  
Chromosomal Rearrangement ◽  
Partial Trisomy ◽  
Complex Chromosomal Rearrangement

De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature

2011 ◽  
Vol 96 (5) ◽  
pp. 1160-1164 ◽  
Author(s):  
Chantal Farra ◽  
Sylke Singer ◽  
Andreas Dufke ◽  
Hanine Ashkar ◽  
Carla Monsef ◽  
...  
Keyword(s):  
Case Report ◽  
Chromosomal Rearrangement ◽  
De Novo ◽  
Review Of The Literature ◽  
Complex Chromosomal Rearrangement ◽  
Fertile Male

Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

2005 ◽  
Vol 25 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
Schu-Rern Chern ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Molecular Cytogenetic

SIMULTANEOUS OCCURRENCE OF RING "G" CHROMOSOME AND GROUP "B" PERICENTRIC INVERSION IN THE SAME INDIVIDUAL: CASE REPORT AND REVIEW OF THE LITERATURE

PEDIATRICS ◽  
1970 ◽  
Vol 46 (1) ◽  
pp. 74-83
Author(s):  
Howard Singer ◽  
Nona Suzann Scaife
Keyword(s):  
Pericentric Inversion ◽  
Failure To Thrive ◽  
Male Infant ◽  
Partial Trisomy ◽  
Chromosome Breakage ◽  
B Chromosome ◽  
Individual Case ◽  
Simultaneous Occurrence ◽  
Partial Monosomy ◽  
Structural Abnormalities

A male infant with failure to thrive was found to have a previously unreported combination of chromosomal structural abnormalities. Evidence is presented which characterizes the abnormal chromosomes as a late-replicating G ring and a pericentric inversion in an early replicating B group chromosome. The mechanisms of pericentric inversion and ring formation are discussed, and possible genetic consequences are noted. The patient's phenotype differed significantly from that of previously reported subjects with G rings, G deletions, and structural abnormalities of the B group. This phenotypic difference could be attributed to the apparent fact that the proband's G ring was a late replicator (G1) and earlier cases were not, on to the seeming variability in ring size which suggested partial trisomy/partial monosomy, or perhaps to the probability that the abnormal B chromosome was pericentrically inverted rather than deleted. The question of the etiologic significance of broken parental chromosomes must be raised, although more study is needed in the area of chromosome breakage, its relationship to abnormal progeny, and the possible role of environmental agents, e.g., drugs and irradiation.

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