title: Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.
abstract: We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification (MLPA) techniques identified an unexpected large unbalanced genomic aberration: a 17.6Mb deletion of 9p associated to a 14.8 Mb duplication of 20p. The deleted 9p genes, especially CER1 and FREM1, seem to be more relevant to the phenotype than the duplicated 20p genes. This study also shows the relevance of using molecular techniques to make an accurate diagnosis in patients with dysmorphic features and multiple anomalies suggestive of chromosome aberration, even if on G-banding their karyotype appears to be normal. Fluorescence in situ hybridization (FISH) was necessary to identify a masked balanced translocation in the patient's mother, indicating the importance of associating cytogenetic and molecular techniques in clinical genetics, given the implications for patient management and genetic counseling.
authors.affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Vera de Freitas Ayres
authors.initials: Vde F
authors.lastname: Meloni
authors.forename: Flavia Balbo
authors.initials: FB
authors.lastname: Piazzon
authors.forename: Maria de Fátima de Faria
authors.initials: Mde F
authors.lastname: Soares
authors.forename: Sylvia Satomi
authors.initials: SS
authors.lastname: Takeno
authors.forename: Denise Maria
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Decio
authors.initials: D
authors.lastname: Brunoni
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D020732:Cytogenetic Analysis; D005188:False Negative Reactions; D005260:Female; D006801:Humans; D007223:Infant; D059785:Karyotype; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D055815:Young Adult