Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2).
Pericentric inversions occur at a frequency of 0.12-0.7% in humans. However, pericentric inversions of chromosome 22 appear to be common, especially in patients originating from the Guadalajara region of Mexico. Here, we report a seventh case of a pericentric inversion of chromosome 22, the resulting recombinant chromosome, and describe the phenotypic features associated with such a recombinant chromosome. It is interesting that five of the seven patients with inv(22) come from Mexico, and four of the five patients from the Guadalajara region.
Tonk
Vijay S
VS
Department of Pediatrics, Texas Tech University, Lubbock, Texas, USA.
Jesurun
C A
CA
Morgan
David L
DL
Lockhart
Lillian H
LH
Velagaleti
Gopalrao V N
GV
D000015:Abnormalities, Multiple / Q000235:genetics*; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002971:Cleft Lip; D002972:Cleft Palate; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008800:Mexico; D010641:Phenotype; D014314:Trisomy