scholarly journals Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

1998 ◽  
Vol 35 (7) ◽  
pp. 597-599 ◽  
Author(s):  
R Savarirayan ◽  
A Bankier
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Severe Phenotype ◽  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

scholarly journals Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

1992 ◽  
Vol 29 (4) ◽  
pp. 251-252 ◽  
Author(s):  
I D Young ◽  
J M Zuccollo ◽  
E L Maltby ◽  
N J Broderick
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Campomelic Dysplasia

Azoospermia Due to a Unique De Novo Balanced Reciprocal Translocation (Y;1) (q12;q25)

2007 ◽  
Vol 28 (5) ◽  
pp. 647-651 ◽  
Author(s):  
M. Braun-Falco ◽  
W. Schempp ◽  
C. Nevinny-Stickel-Hinzpeter ◽  
F.-M. Kohn
Keyword(s):  
Reciprocal Translocation ◽  
De Novo

scholarly journals De novo simultaneous reciprocal translocation and deletion.

1978 ◽  
Vol 15 (2) ◽  
pp. 152-154 ◽  
Author(s):  
K Fries ◽  
G Mundel ◽  
M Rosenblatt
Keyword(s):  
Reciprocal Translocation ◽  
De Novo

scholarly journals A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

2017 ◽  
Vol 5 (3) ◽  
pp. 261-268 ◽  
Author(s):  
Anna E. von Bohlen ◽  
Johann Böhm ◽  
Ramona Pop ◽  
Diana S. Johnson ◽  
John Tolmie ◽  
...  
Keyword(s):  
Initiation Codon ◽  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome

1991 ◽  
Vol 86 (5) ◽  
Author(s):  
A. Smith ◽  
R. Lindeman ◽  
F. Volpato ◽  
A. Kearney ◽  
S. White ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Prader Willi Syndrome

De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly

1995 ◽  
Vol 57 (3) ◽  
pp. 447-449 ◽  
Author(s):  
Yoshimitsu Fukushima ◽  
Hirofumi Ohashi ◽  
Keiko Wakui ◽  
Hiroshi Nishimoto ◽  
Masato Sato ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
De Novo
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