Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions

2004 ◽  
Vol 47 (2) ◽  
pp. 191-197 ◽  
Author(s):  
K. Bosse ◽  
T. Eggermann ◽  
K. Van der Ven ◽  
R. Raff ◽  
H. Engels ◽  
...  
Keyword(s):  
Case Report ◽  
Unbalanced Translocation

scholarly journals Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p

2021 ◽  
Author(s):  
Melab Musabi ◽  
Ayman Saker ◽  
Jessi Baer ◽  
Peter Wang ◽  
Chitra Prasad ◽  
...  
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Management ◽  
Clinical Course ◽  
Unbalanced Translocation ◽  
Paternal Origin ◽  
Chromosomal Disorder ◽  
Rare Diagnosis ◽  
Mosaic Trisomy

Background: Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin

Cognitive and Behavioral Functioning Among Fraternal Twins with an Unbalanced Translocation of Chromosomes 10q and 12p: A Case Report

2019 ◽  
Vol 31 (5) ◽  
pp. 635-651
Author(s):  
Daryaneh Badaly ◽  
Kimberley P. Heinrich ◽  
Anna Davis ◽  
Angela M. Fish ◽  
Mohammad Ghaziuddin
Keyword(s):  
Case Report ◽  
Behavioral Functioning ◽  
Unbalanced Translocation

Case Report: Unbalanced Translocation Causing Terminal Deletion of 11q25 to 11qter and Terminal Duplication of 12q24 to 12qter in Addition to 16q24.2 Deletion

2016 ◽  
Vol 209 (5) ◽  
pp. 248
Author(s):  
Omaiyah Al Abdulwahed ◽  
Hani AlKhaldi ◽  
Afnan Almousa ◽  
Shareefa AlHawaj ◽  
Rabab AlAttas ◽  
...  
Keyword(s):  
Case Report ◽  
Terminal Deletion ◽  
Unbalanced Translocation

Unbalanced translocation 46,xy,−15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature

1992 ◽  
Vol 44 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Johan L. K. Van Hove ◽  
Allyn McConkie-Rosell ◽  
Yuan-Tsong Chen ◽  
A. Kimberly Iafolla ◽  
Joseph T. Lanman ◽  
...  
Keyword(s):  
Case Report ◽  
Unbalanced Translocation ◽  
Review Of The Literature

scholarly journals 102 Emanuel syndrome – case report of a rare unbalanced translocation syndrome

2021 ◽  
Author(s):  
Lorita Mihovilović Prajz ◽  
Lucija Debeljak Poslek ◽  
Rebeka Ribičić ◽  
Jasna Tumbri ◽  
Iva Kuliš ◽  
...  
Keyword(s):  
Case Report ◽  
Unbalanced Translocation ◽  
Emanuel Syndrome

scholarly journals Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

2009 ◽  
Vol 2 (1) ◽  
pp. 27 ◽  
Author(s):  
David J Wu ◽  
Nicholas J Wang ◽  
Jennette Driscoll ◽  
Naghmeh Dorrani ◽  
Dahai Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Autistic Disorder ◽  
Unbalanced Translocation
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