Abstract
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.
Original language | English (US) |
---|---|
Pages (from-to) | 92-95 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 124 A |
Issue number | 1 |
State | Published - Jan 1 2004 |
Fingerprint
Keywords
- Distal 22q trisomy
- Dysmorphism
- Pericentric inversion
- Recombinant
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Molecular Cytogenetic Characterization of a Recombinant Chromosome rec(22)dup(22q)inv(22)(p13q12.2). / Tonk, Vijay S.; Jesurun, C. A.; Morgan, David L.; Lockhart, Lillian; Velagaleti, Gopalrao V N.
In: American Journal of Medical Genetics, Vol. 124 A, No. 1, 01.01.2004, p. 92-95.Research output: Contribution to journal › Article
}
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
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
UR - http://www.scopus.com/inward/record.url?scp=0942276986&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0942276986&partnerID=8YFLogxK
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 -