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

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

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

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 Familial translocation t(5;11)(q32;q23) resulting in Jacobsen syndrome and distal trisomy 5q31 in a female patient

2019 ◽  
Vol 5 (3) ◽  
Author(s):  
Michel S. Torres ◽  
◽  
Alina G. García ◽  
Arlay C. López ◽  
Anduriña B. Martínez ◽  
...  
Keyword(s):  
Female Patient ◽  
Jacobsen Syndrome ◽  
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.

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