A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report

Zhou,Yu‑Chun; Zhang,Cui; Zhai,Jin‑Sheng; Li,Tian‑Fu; Wu,Qiu‑Yue; Li,Wei‑Wei; Li,Na; Li,Xiao‑Jun; Huang,Yu-Feng; Cui,Ying‑Xia; Xia,Xin‑Yi

doi:10.3892/mmr.2015.3436

July-2015 Volume 12 Issue 1

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July-2015 Volume 12 Issue 1

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Case Report Open Access

A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report

Authors:
- Yu‑Chun Zhou
- Cui Zhang
- Jin‑Sheng Zhai
- Tian‑Fu Li
- Qiu‑Yue Wu
- Wei‑Wei Li
- Na Li
- Xiao‑Jun Li
- Yu-Feng Huang
- Ying‑Xia Cui
- Xin‑Yi Xia
View Affiliations / Copyright

Affiliations: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China, Department of Healthcare, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China

Copyright: © Zhou et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
Pages: 155-158
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Published online on: March 5, 2015

https://doi.org/10.3892/mmr.2015.3436
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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.

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