TY - JOUR
T1 - De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders
AU - Milani, D.
AU - Bedeschi, M. F.
AU - Iascone, M.
AU - Chiarelli, G.
AU - Cerutti, M.
AU - Menni, F.
PY - 2012/4
Y1 - 2012/4
N2 - We describe the case of a 6-year-old boy with a de novo deletion of the long arm of chromosome 1 encompassing band 1q31.1-q32.1, minor facial anomalies, mild developmental delay, and behavioral disorders. His postnatal karyotype was normal. Using array-comparative genomic hybridization, we identified and characterized a de novo 1q interstitial deletion of about 15.6 Mb, which partially overlaps those of other reported cases. We considered the gene content of the deleted region in an attempt to compare the clinical features of our patient with these other cases, even though they were not characterized molecularly in detail. The most remarkable difference was the absence of microcephaly. To the best of our knowledge, this is the first report of a de novo 1q31.1-q32.1 deletion. Moreover, it illustrates how molecular delineation associated with fine clinical characterization can improve the genotype-phenotype correlations of classical cytogenetic abnormalities.
AB - We describe the case of a 6-year-old boy with a de novo deletion of the long arm of chromosome 1 encompassing band 1q31.1-q32.1, minor facial anomalies, mild developmental delay, and behavioral disorders. His postnatal karyotype was normal. Using array-comparative genomic hybridization, we identified and characterized a de novo 1q interstitial deletion of about 15.6 Mb, which partially overlaps those of other reported cases. We considered the gene content of the deleted region in an attempt to compare the clinical features of our patient with these other cases, even though they were not characterized molecularly in detail. The most remarkable difference was the absence of microcephaly. To the best of our knowledge, this is the first report of a de novo 1q31.1-q32.1 deletion. Moreover, it illustrates how molecular delineation associated with fine clinical characterization can improve the genotype-phenotype correlations of classical cytogenetic abnormalities.
KW - 1q interstitial deletion
KW - Array-CGH
UR - http://www.scopus.com/inward/record.url?scp=84859561733&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84859561733&partnerID=8YFLogxK
U2 - 10.1159/000336979
DO - 10.1159/000336979
M3 - Article
C2 - 22398643
AN - SCOPUS:84859561733
VL - 136
SP - 167
EP - 170
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 3
ER -