Fragile X syndrome is characterized by all the following EXCEPT
A. Long face
B. Large ear
C. Large nose
D. Large testes
Ans. (C). [Large nose]
Fragile X-syndrome
Fragile X syndrome is the most frequent cause of hereditary mental retardation
• A cardinal characteristic of this condition is testicular enlargement (macro-orchidism)
• Large size characteristics facial features including
• Long face
• Prominent jaw
• Large prominent ears
• Stereotyped behavior and speech (High pitched voice)
The fragile X syndrome is due to allelic expansion, which interfere with gene functions
• Some show evidence of mild connective tissue defect with joint hypermobility and mitral valve prolapse
A. Long face
B. Large ear
C. Large nose
D. Large testes
Ans. (C). [Large nose]
Fragile X-syndrome
Fragile X syndrome is the most frequent cause of hereditary mental retardation
• A cardinal characteristic of this condition is testicular enlargement (macro-orchidism)
• Large size characteristics facial features including
• Long face
• Prominent jaw
• Large prominent ears
• Stereotyped behavior and speech (High pitched voice)
The fragile X syndrome is due to allelic expansion, which interfere with gene functions
• Some show evidence of mild connective tissue defect with joint hypermobility and mitral valve prolapse
