title: Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.
abstract: We report on an 18-month-old boy with a 2q33.3 deletion. The clinical findings observed in the propositus included minor anomalies of face and distal limbs, intrauterine and postnatal growth retardation, microcephaly and, so far, moderate developmental delay. Conventional GTG banded chromosome analysis indicated a small deletion in distal 2q. Subsequent analysis by fluorescent in situ hybridization (FISH) using different probes allowed us to narrow down the deletion to most or all of segment 2q33.3. This case shows the importance of the application of different YAC probes for a precise determination of breakpoints in small interstitial deletions.
authors.affiliation: Institute of Medical Genetics, University of Zürich, Zürich, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Riegel
authors.forename: E
authors.initials: E
authors.lastname: Morava
authors.forename: M
authors.initials: M
authors.lastname: Czakó
authors.forename: G
authors.initials: G
authors.lastname: Kosztolányi
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male