title: A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.
abstract: Partial trisomy 9 is a common autosomal trisomy, which is characterized by non-specific psychomotor delay, mental retardation and moderately abnormal characteristic facial features. Generally, partial trisomy 9 leads to variable phenotypes depending on the size and position of the duplicated region. However, a precise genotype/phenotype map has not been determined. The present study reports the case of a 3-year-old female with certain typical features of trisomy 9p syndrome, who presented with a number of the distinctive symptoms, as well as sensorineural hearing loss, which has not previously been associated with this trisomy. Karyotype, M‑FISH and OaCGH analysis were performed on the patient and her parents. The final karyotype was determined to be 47, XX, +mar.ish der (9) (wcp9+). arr cgh 9pterq21.12 (DOCK8 → LOC138225)x3. Cytogenetic results showed a de novo extra der (9) with 69.5 Mb duplication. Although the molecular mechanism underlying the hearing loss is unclear, it was proposed that the 9q13 → 9q21 region may be critical for hearing.
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Yu-Chun
authors.initials: YC
authors.lastname: Zhou
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Cui
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Healthcare, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Jin-Sheng
authors.initials: JS
authors.lastname: Zhai
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Tian-Fu
authors.initials: TF
authors.lastname: Li
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Qiu-Yue
authors.initials: QY
authors.lastname: Wu
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Li
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Li
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Yu-Feng
authors.initials: YF
authors.lastname: Huang
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology