Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations

1979 ◽  
Vol 51 (3) ◽  
Author(s):  
Hiroshi Nakai ◽  
Yoshifumi Yamamoto ◽  
Yoshikazu Kuroki
Keyword(s):  
Partial Trisomy ◽  
Three Generations ◽  
Familial Translocation

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

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

2005 ◽  
Vol 139A (1) ◽  
pp. 19-24 ◽  
Author(s):  
Susanne Zahn ◽  
Antje Ehrbrecht ◽  
Kristin Bosse ◽  
Vera Kalscheuer ◽  
Peter Propping ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Jacobsen Syndrome ◽  
Familial Translocation

Familial translocation leading to partial trisomy 13: Report of three cases

1984 ◽  
Vol 51 (4) ◽  
pp. 481-487 ◽  
Author(s):  
S. A. Tharapel ◽  
R. C. Lewandowski ◽  
M. K. Kukolich
Keyword(s):  
Partial Trisomy ◽  
Trisomy 13 ◽  
Familial Translocation

scholarly journals Translocation, t(4q-;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation

1974 ◽  
Vol 11 (2) ◽  
pp. 201-205 ◽  
Author(s):  
H. G. Schrott ◽  
S. Sakaguchi ◽  
U. Francke ◽  
L. Luzzatti ◽  
P. J. Fialkow
Keyword(s):  
Partial Trisomy ◽  
Fourth Generation ◽  
Chromosome 4 ◽  
Three Generations

Partial trisomy 2q and familial translocation t(2;18)(q31;p11)

1978 ◽  
Vol 45 (2) ◽  
pp. 225-228 ◽  
Author(s):  
L. Wisniewski ◽  
R. Chan ◽  
J. V. Higgins
Keyword(s):  
Partial Trisomy ◽  
Familial Translocation

Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)

1977 ◽  
Vol 38 (1) ◽  
pp. 7-13 ◽  
Author(s):  
Martijn H. Breuning ◽  
Jan B. Bijlsma ◽  
Henny F. de France
Keyword(s):  
Partial Trisomy ◽  
Familial Translocation

scholarly journals Exceptional Complex Chromosomal Rearrangements in Three Generations

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Hannie Kartapradja ◽  
Nanis Sacharina Marzuki ◽  
Mark D. Pertile ◽  
David Francis ◽  
Lita Putri Suciati ◽  
...  
Keyword(s):  
Chromosomal Rearrangements ◽  
Partial Trisomy ◽  
Structural Rearrangement ◽  
Derivative Chromosome ◽  
Chromosome 4 ◽  
Partial Monosomy ◽  
Three Generations ◽  
Complex Chromosomal Rearrangements ◽  
Whole Genome Microarray ◽  
Translocation Breakpoints

We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

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