Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

1983 ◽  
Vol 64 (1) ◽  
pp. 97-97 ◽  
Author(s):  
P. Franceschini ◽  
M. Cirillo Silengo ◽  
G. Davi ◽  
R. Bianco ◽  
M. Biagioli
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 3

Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation

2008 ◽  
Vol 19 (3) ◽  
pp. 174-180 ◽  
Author(s):  
Margherita Cirillo Silengo ◽  
Luigi Luzzatti ◽  
Willard R. Centerwall ◽  
Jack M. Costello ◽  
Malcolm Parslow
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Interstitial Deletion

Interstitial deletion of the short arm of chromosome 3

1988 ◽  
Vol 79 (4) ◽  
Author(s):  
J.M. Hertz ◽  
W. Coerdt ◽  
N. Hahnemann ◽  
M. Schwartz
Keyword(s):  
Interstitial Deletion ◽  
Chromosome 3

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

scholarly journals An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

1977 ◽  
Vol 14 (6) ◽  
pp. 455-459 ◽  
Author(s):  
L Wisniewski ◽  
G Purdy ◽  
T Hassold ◽  
C Wilson ◽  
K Bentley ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 9 ◽  
Multiple Congenital Anomalies

Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

2009 ◽  
Vol 52 (1) ◽  
pp. 49-52 ◽  
Author(s):  
James Lespinasse ◽  
Stefania Gimelli ◽  
Frédérique Béna ◽  
Stylianos E. Antonarakis ◽  
François Ansermet ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Language Delay ◽  
Mild Mental Retardation
Sign in / Sign up

Export Citation Format

Share Document