title: De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.
abstract: Interstitial triplications in conjunction with uniparental disomy (UPD) have been rarely reported. Here we report on a patient with de novo triplication at 11q13.4-q14.3 and UPD for 11q14.3-qter. Chromosomal analysis showed a karyotype of 46, XYqh+, der (11), and normal parental karyotypes. A single nucleotide polymorphism (SNP) array detected an 18.7 Mb copy number gain consistent with tetrasomy for 11q13.4-q14.3 (chr11:71,002,347 bp-89,725,167 bp, hg19) and absence of heterozygosity for a 45 Mb stretch on 11q and consistent with uniparental isodisomy at 11q14.3-qter (chr11:89,843,477 bp-134,930,689 bp, hg19) in our patient. FISH analysis using two probes on both sides of the tetrasomic region showed an inverted 11q13.4-q14.3 region between two direct oriented 11q13.4-q14.3 segments (11q13.4-q14.3::11q14.3-q13.4::11q13.4-qter). Previously reported features of duplication overlapping 11q13-q14 showed clinical variability. Our patient presented with some of those frequently described features, such as development delay, facial dysmorphism, and microcephaly but without congenital heart disease. Moreover, our patient had in addition a brain anomaly (absence of cerebellar vermis and partial absence of corpus callosum) which has not been reported. To our knowledge, this is the sixth patient reported an intrachromosomal triplication together with UPD. Interstitial 11q duplication overlapping 11q13-q14 is associated with intellectual disability/development delay, microcephaly, and facial dysmorphism but also other malformations.
authors.affiliation: Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Xiao
authors.affiliation: Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
authors.forename: Huihui
authors.initials: H
authors.lastname: Xu
authors.affiliation: Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Ye
authors.affiliation: Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Hu
authors.affiliation: Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
authors.forename: Yingwei
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.|Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai, China.
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Qiu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D065814:Cerebellar Vermis / Q000002:abnormalities / Q000378:metabolism; D002880:Chromosomes, Human, Pair 11; D003337:Corpus Callosum / Q000378:metabolism / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D059785:Karyotype; D019656:Loss of Heterozygosity; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D020411:Oligonucleotide Array Sequence Analysis; D058670:Tetrasomy / Q000235:genetics* / Q000473:pathology; D024182:Uniparental Disomy / Q000235:genetics* / Q000473:pathology
keywords: 11q; tetrasomy; uniparental disomy