Amyoplasia associated with a balanced de novo insertion of a segment of the long arm of chromosome 5 into chromosome 2.
Eisenhut
Michael
M
Weindling
Michael
M
Fryer
Alan
A
D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D014178:Translocation, Genetic