Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities.
A newborn male presenting with a peculiar appearance, hypertonia, a flexum attitude, hypospadias and skeletal abnormalities was found to bear a r 9 chromosome. A phenotypic distinction between early and late presenting forms is discussed.
Van Maldergem
L
L
Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval.
Avni
F
F
Mossay
B
B
Herens
C
C
Verloes
A
A
Gillerot
Y
Y
D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D009139:Musculoskeletal Abnormalities