Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation

1977 ◽  
Vol 125 (3) ◽  
pp. 169-174 ◽  
Author(s):  
Robert L. Summitt ◽  
Avirachan T. Tharapel ◽  
Robert S. Wilroy
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Autosomal Translocation

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

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.

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement—the CFC syndrome

1986 ◽  
Vol 25 (3) ◽  
pp. 413-427 ◽  
Author(s):  
James F. Reynolds ◽  
Giovanni Neri ◽  
Jurgen P. Herrmann ◽  
Bruce Blumberg ◽  
James G. Coldwell ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Cutaneous Involvement ◽  
Cfc Syndrome

Multiple “marker” chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies

1988 ◽  
Vol 29 (2) ◽  
pp. 353-359 ◽  
Author(s):  
C. Tozzi ◽  
F. Calvieri ◽  
L. Alesi ◽  
G. Neri ◽  
John M. Optiz ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Marker Chromosomes ◽  
Cytogenetic Finding
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