Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

• Main Authors: Jamsheer Aleksander (Author), Sowińska Anna (Author), Simon Dorota (Author), Jamsheer-Bratkowska Małgorzata (Author), Trzeciak Tomasz (Author), Latos-Bieleńska Anna (Author)
• Format: Book
• Published: BMC, 2013-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental...