title: Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.
abstract: Trisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart defects. Here we report a case of near-complete T17P of which the genomic dosage aberrations were delineated by chromosomal microarray along with conventional diagnostic modalities. A 9-year-old Korean boy was admitted because of esophageal obstruction. He showed clinical manifestations of T17P, along with atypical features of scoliosis, corpus callosum agenesis, and seizure. Chromosome analyses revealed an inverted duplication of the chromosomal segment between 17p11.2 and 17p13.3. Chromosomal microarray revealed a duplication of the most of the short arm of chromosome 17 (size ~19.09 Mb) along with a cryptic deletion of a small segment of 17p terminal end (17pter) (~261 Kb). This is the first report of molecular characterization of near-complete T17P from inverted duplication in association with 17pter microdeletion. The fine delineation of the extent of genomic aberration by SNP-based microarray could help us better understand the molecular mechanism and genotype-phenotype correlations in T17P syndrome.
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Chang-Hun
authors.initials: CH
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Seung-Tae
authors.initials: ST
authors.lastname: Lee
authors.affiliation: Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Jeong Meen
authors.initials: JM
authors.lastname: Seo
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: sunnyhk@skku.edu.
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
mesh_terms: D002648:Child; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012600:Scoliosis / Q000235:genetics; D017384:Sequence Deletion; D013577:Syndrome; D014314:Trisomy
keywords: 17p terminal end; 17pter; Chromosomal microarray; Chromosome 17; DOC2B; FISH; ISCN; International System for Human Cytogenetic Nomenclature; MLPA; PAFAH1B1; PMP22; RAI1; RARA; RPH3AL; SMS; SNP; Smith–Magenis syndrome; T17P; TP53; Trisomy 17p; YWHAE; double C2 beta gene; fluorescence in situ hybridization; multiplex ligation-dependent probe amplification; peripheral myelin protein 22 gene; platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene; rabphilin 3A-like (without C2 domains) gene; retinoic acid induced 1 gene; retinoic acid receptor, alpha gene; single nucleotide polymorphism; trisomy of the short arm of chromosome 17; tumor protein p53 gene; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide gene