Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations.
We observed a pericentric inversion of chromosome 6 in three generations of one family. Carriers had several phenotypic alterations including congenital cataracts, hearing loss, dental anomalies, ear anomalies, premature graying, unilateral strabismus, coloboma, and mild mental retardation. These manifestations may all be explained by a failure or delay in development of tissues derived from neural crest cells and are similar to these seen in the Rieger syndrome. The description of this family extends the known phenotypic abnormalities associated with alterations of chromosome 6.
Wenstrom
K D
KD
Department of Obstetrics and Gynecology, University of Iowa Hospital, Iowa City 52242.
Muilenburg
A C
AC
Patil
S R
SR
Hanson
J W
JW
D000015:Abnormalities, Multiple / Q000235:genetics*; D007446:Chromosome Inversion; D002896:Chromosomes, Human, Pair 6 / Q000648:ultrastructure*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype