title: A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21.
abstract: Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to this unique chromosomal abnormality. Array comparative genomic hybridization (array CGH) revealed a gain in copy number on the long arm of chromosome 11, spanning at least 18.22 Mb. Additionally, there was a gain in copy number on the long arm of chromosome 22, spanning at least 3.46 Mb. FISH analysis using a chromosome 11 short arm telomere probe (11p14.2), a chromosome 11 long arm telomere probe (11q24.3), and a chromosome 22 long arm telomere probe (22q13.33) confirmed the origin of the marker chromosome. It has been confirmed by the State Key Laboratory of Medical Genetics of China that this is the first reported instance of the karyotype 47,XX, +der(22)t(11;22)(q23.3;q11.1)mat in the world. Our study reports an additional case that can be used to further characterize and delineate the clinical ramifications of partial trisomy of 11q and 22q.
authors.affiliation: Aristogenesis Center, No. 202 Hospital of PLA, Shenyang, China.
authors.forename: P-S
authors.initials: PS
authors.lastname: Zou
authors.affiliation: Genetic Laboratory, Women and Children's Hospital of LinYi City, LinYi, China.
authors.forename: H-F
authors.initials: HF
authors.lastname: Li
authors.affiliation: Aristogenesis Center, No. 202 Hospital of PLA, Shenyang, China.
authors.forename: L-S
authors.initials: LS
authors.lastname: Chen
authors.affiliation: Aristogenesis Center, No. 202 Hospital of PLA, Shenyang, China.
authors.forename: M
authors.initials: M
authors.lastname: Ma
authors.affiliation: Aristogenesis Center, No. 202 Hospital of PLA, Shenyang, China.
authors.forename: X-H
authors.initials: XH
authors.lastname: Chen
authors.affiliation: Special Clinical Department, No. 202 Hospital of PLA, Shenyang, China.
authors.forename: D
authors.initials: D
authors.lastname: Xue
authors.affiliation: Aristogenesis Center, No. 202 Hospital of PLA, Shenyang, China.
authors.forename: D-H
authors.initials: DH
authors.lastname: Cao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D059785:Karyotype; D014314:Trisomy / Q000235:genetics*