Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)

2004 ◽  
Vol 128A (2) ◽  
pp. 219-221 ◽  
Author(s):  
T. Martin-Denavit ◽  
M. Till ◽  
H. Plauchu
Keyword(s):  
Unbalanced Translocation

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

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

1989 ◽  
Vol 84 (1) ◽  
pp. 51-54 ◽  
Author(s):  
A. Caiulo ◽  
B. Bardoni ◽  
G. Camerino ◽  
S. Guioli ◽  
A. Minelli ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Unbalanced Translocation

Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 756-761
Author(s):  
Humberto Moreno-Fuenmayor ◽  
Elaine H. Zackai ◽  
William J. Mellman ◽  
Margaret Aronson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Upper Lip ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Hands And Feet

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the trisomy 1Oq 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthamia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 1Oq, are believed to be expressions of a partial monosomy of 17p.

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q

2003 ◽  
Vol 120A (1) ◽  
pp. 127-135 ◽  
Author(s):  
Shelly R. Gunn ◽  
Mansoor Mohammed ◽  
Xavier T. Reveles ◽  
David H. Viskochil ◽  
Janice C. Palumbos ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Characterization ◽  
Unbalanced Translocation

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization

1998 ◽  
Vol 75 (4) ◽  
pp. 409-413 ◽  
Author(s):  
John J.M. Engelen ◽  
Wil J.G. Loots ◽  
Jozefa C.M. Albrechts ◽  
Astrid S. Plomp ◽  
Syb B. van der Meer ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
De Novo ◽  
Unbalanced Translocation
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