Mental retardation and congenital malformations associated with a ring chromosome 9

1976 ◽  
Vol 32 (3) ◽  
pp. 289-293 ◽  
Author(s):  
S. Nakajima ◽  
M. Yanagisawa ◽  
S. Kamoshita ◽  
Y. Nakagome
2008 ◽  
Vol 7 (3) ◽  
pp. 192-196 ◽  
Author(s):  
K. Fried ◽  
M. Rosenblatt ◽  
G. Mundel ◽  
R. Krikler

1979 ◽  
Vol 50 (1) ◽  
pp. 29-32 ◽  
Author(s):  
J. P. Fryns ◽  
A. Lambrechts ◽  
H. Jansseune ◽  
H. Van den Berghe

1974 ◽  
Vol 23 (S1) ◽  
pp. 253-258 ◽  
Author(s):  
B. Dallapiccola ◽  
P. E. Gallenga ◽  
A. Pinca ◽  
L. Capra

A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, has been detected in a patient with mental retardation, congenital malformations, and peculiar ocular anomalies. This observation confirms that, even without evidence of mosaicism, this chromosome does not seriously upset the viability of cells and could be less deleterious to the individual than trisomy 13, 18, or 21.The mental development is not too much impaired and the skeletal abnormalities are mild, as compared to those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. They include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of retinal vessels, absence of deep perception.


2013 ◽  
Vol 161 (6) ◽  
pp. 1447-1452 ◽  
Author(s):  
Else la Cour Sibbesen ◽  
Cathrine Jespersgaard ◽  
Daniela Alosi ◽  
Anne-Marie Bisgaard ◽  
Zeynep Tümer

2007 ◽  
Vol 74 (5) ◽  
pp. 507-508 ◽  
Author(s):  
Jayesh Sheth ◽  
Rajesh Joshi ◽  
Frenny Sheth
Keyword(s):  

1987 ◽  
Vol 63 (7) ◽  
pp. 250-252
Author(s):  
Suzue KANATA ◽  
Tetsuji KADOTANI ◽  
Yoko WATANABE ◽  
Noriko KUROSAKI ◽  
Toshio KUMADA ◽  
...  

1987 ◽  
Vol 28 (S3) ◽  
pp. 133-138 ◽  
Author(s):  
Russell O. Hess ◽  
Lorraine F. Meisner ◽  
John M. Opitz ◽  
Jay Bernstein
Keyword(s):  

1987 ◽  
Vol 63 (3) ◽  
pp. 93-95 ◽  
Author(s):  
Tetsuji KADOTANI ◽  
Suzue KANATA ◽  
Yoko WATANABE ◽  
Noriko KUROSAKI ◽  
Toshio KUMADA ◽  
...  

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