a novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities

a novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities

;Shalinder Singh;Fern Ashton;Renate Marquis-Nicholson;Jennifer M. Love;Chuan-Ching Lan;Salim Aftimos;Alice M. George;Donald R. Love
jurnal perikanan universitas gadjah mada 2012 Vol. 2012 pp. -
146
singh2012casea

Abstract

Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q, which was confirmed by Fluorescence in situ hybridisation (FISH). The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events.

Keywords

Citation

ID: 172736
Ref Key: singh2012casea
Use this key to autocite in SciMatic or Thesis Manager

References

Blockchain Verification

Account:
NFT Contract Address:
0x95644003c57E6F55A65596E3D9Eac6813e3566dA
Article ID:
172736
Unique Identifier:
10.1155/2012/459602
Network:
Scimatic Chain (ID: 481)
Loading...
Blockchain Readiness Checklist
Authors
Abstract
Journal Name
Year
Title
5/5
Creates 1,000,000 NFT tokens for this article
Token Features:
  • ERC-1155 Standard NFT
  • 1 Million Supply per Article
  • Transferable via MetaMask
  • Permanent Blockchain Record
Blockchain QR Code
Scan with Saymatik Web3.0 Wallet

Saymatik Web3.0 Wallet