Abstract:
:A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Papoulidis I,Paspaliaris V,Papageorgiou E,Siomou E,Dagklis T,Sotiriou S,Thomaidis L,Manolakos Edoi
10.1159/000381568subject
Has Abstractpub_date
2015-01-01 00:00:00pages
19-24issue
1eissn
1424-8581issn
1424-859Xpii
000381568journal_volume
145pub_type
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