TY - JOUR
T1 - Molecular Cytogenetic Characterization of a Recombinant Chromosome rec(22)dup(22q)inv(22)(p13q12.2)
AU - Tonk, Vijay S.
AU - Jesurun, C. A.
AU - Morgan, David L.
AU - Lockhart, Lillian H.
AU - Velagaleti, Gopalrao V.N.
PY - 2004/1/1
Y1 - 2004/1/1
N2 - 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.
AB - 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.
KW - Distal 22q trisomy
KW - Dysmorphism
KW - Pericentric inversion
KW - Recombinant
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U2 - 10.1002/ajmg.a.20384
DO - 10.1002/ajmg.a.20384
M3 - Article
C2 - 14679594
AN - SCOPUS:0942276986
VL - 124 A
SP - 92
EP - 95
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -