Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.
We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.
Calvieri
F
F
Centro per le Embriofetopatie, Ospedale S. Giovanni, Roma, Italy.
Tozzi
C
C
Benincori
C
C
De Merulis
M V
MV
Bellussi
A
A
Genuardi
M
M
Neri
G
G
D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D011859:Radiography