Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies

2008 ◽  
Vol 1151 (1) ◽  
pp. 157-166 ◽  
Author(s):  
Lisa Edelmann ◽  
Kurt Hirschhorn
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Clinical Utility ◽  
Array Cgh ◽  
Multiple Congenital Anomalies ◽  
Chromosomal Imbalances

scholarly journals Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

2011 ◽  
Vol 54 (4) ◽  
pp. e425-e432 ◽  
Author(s):  
Fernanda Sarquis Jehee ◽  
Jean Tetsuo Takamori ◽  
Paula F. Vasconcelos Medeiros ◽  
Ana Carolina B. Pordeus ◽  
Flavia Roche M. Latini ◽  
...  
Keyword(s):  
Developing Countries ◽  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Chromosomal Imbalances

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

scholarly journals Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Annette Uwineza ◽  
Jean-Hubert Caberg ◽  
Janvier Hitayezu ◽  
Anne Cecile Hellin ◽  
Mauricette Jamar ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Anomalies ◽  
Array Cgh ◽  
Multiple Congenital Anomalies ◽  
Development Delay

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother

2008 ◽  
Vol 50 (2) ◽  
pp. 63-73 ◽  
Author(s):  
C. Apacik ◽  
M. Cohen ◽  
M. Jakobeit ◽  
B. Schmucker ◽  
S. Schuffenhauer ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies
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