De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome

1989 ◽  
Vol 32 (1) ◽  
pp. 36-41 ◽  
Author(s):  
David Chitayat ◽  
Carrie L. Fagerstrom ◽  
Dagmar K. Kalousek ◽  
Jack Rootman ◽  
Glenn P. Taylor ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
De Novo ◽  
Multiple Congenital Anomalies

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.

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

1995 ◽  
Vol 55 (1) ◽  
pp. 30-32 ◽  
Author(s):  
Michael L. Levin ◽  
Lisa G. Shaffer ◽  
Richard A. Lewis ◽  
Mary V. Gresik ◽  
James R. Lupski
Keyword(s):  
Congenital Anomalies ◽  
De Novo ◽  
Interstitial Deletion ◽  
Chromosome 17 ◽  
Multiple Congenital Anomalies

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

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability

Gene ◽  
2013 ◽  
Vol 517 (1) ◽  
pp. 82-88 ◽  
Author(s):  
Maggie S. Brett ◽  
Ivy S.L. Ng ◽  
Eileen C.P. Lim ◽  
Min Hwee Yong ◽  
Zhihui Li ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Growth Retardation ◽  
Congenital Anomalies ◽  
De Novo ◽  
Multiple Congenital Anomalies
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