scholarly journals Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins

2019 ◽  
Vol 10 (5) ◽  
pp. 264-271
Author(s):  
Tatiana Mozer Joaquim ◽  
Carlos H. Paiva Grangeiro ◽  
Flávia Gaona de Oliveira Gennaro ◽  
Alexandra Galvão Gomes ◽  
Jeremy A. Squire ◽  
...  
Keyword(s):  
Partial Monosomy ◽  
Familial Translocation

Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

2017 ◽  
Vol 15 (06) ◽  
pp. 332-337
Author(s):  
Yael Goldberg ◽  
Racheli Berger ◽  
Amir Peleg ◽  
Lena Sagi-Dain
Keyword(s):  
Clinical Features ◽  
Partial Trisomy ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Familial Translocation ◽  
Partial Monosomy 5P

AbstractTwo siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.

Partial trisomy 10p and familial translocation t(7;10)(p22;p12)

1977 ◽  
Vol 35 (3) ◽  
pp. 353-356 ◽  
Author(s):  
George Johnson ◽  
Ronald Bachman ◽  
Terry Roed ◽  
Peggy Riddervold
Keyword(s):  
Partial Trisomy ◽  
Familial Translocation

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)

2000 ◽  
Vol 92 (5) ◽  
pp. 328-335 ◽  
Author(s):  
Colyn B. Cargile ◽  
Iain McIntosh ◽  
Mark V. Clough ◽  
Julie Rutberg ◽  
Reza Yaghmai ◽  
...  
Keyword(s):  
Familial Translocation

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.

Familial translocation involving chromosome 6, 14 and 20, identified by quinacrine fluorescence

1971 ◽  
Vol 13 (3) ◽  
pp. 205-209 ◽  
Author(s):  
P. W. Allderdice ◽  
O. J. Miller ◽  
D. A. Miller ◽  
W. R. Breg ◽  
E. Gendel ◽  
...  
Keyword(s):  
Chromosome 6 ◽  
Familial Translocation ◽  
Quinacrine Fluorescence
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