TY - JOUR
T1 - Duplication 18q21.31-q22.2
AU - Ceccarini, Caterina
AU - Sinibaldi, Lorenzo
AU - Bernardini, Laura
AU - De Simone, Roberto
AU - Mingarelli, Rita
AU - Novelli, Antonio
AU - Dallapiccola, Bruno
PY - 2007/2/15
Y1 - 2007/2/15
N2 - We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.
AB - We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.
KW - Chromosome 18q
KW - Chromosome duplication
KW - Dysmorphisms
KW - Mental retardation
UR - http://www.scopus.com/inward/record.url?scp=33846844969&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33846844969&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31588
DO - 10.1002/ajmg.a.31588
M3 - Article
C2 - 17256793
AN - SCOPUS:33846844969
VL - 143
SP - 343
EP - 348
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -