Medical Microbiology & Diagnosis

Department of Pediatrics, Sheikh Shakbout Medical City, Abu Dhabi, UAE

Publications

• Research Article   
  17q12 Micro-Duplication
  Author(s): Abhijeet Lonikar, Javaria Jamil, Purnami Prashanth and Junaid M. Khan*
  
  Objective: We present a postnatal diagnosis of 17q12 micro-duplication with no obvious phenotypic abnormality Case review: A female newborn weighing 2058 g was delivered NVD at 34+5 weeks of gestation to a Gravida 3 Para 2 23 year old mother, who had an antenatal history of significant maternal polyhydraminos. The baby was born flat and cyanosed with an APGAR score of 3. Discussion: The chromosomal microarray analysis revealed a copy number gain (4 copies) of “unknown significance” of the long arm of chromosome 17 at 17q12 of size 431 kbp and encompassing 7 OMIM genes. The result also showed stretches of LOH (loss of hetrozygosity) on several chromosomes. The mitochondrial genome analysis identified a heterozygous likely pathogenic variant in the ANKRD11 gene. This result is consistent with the genetic diag.. Read More»
  DOI: 10.37421/2161-0703.21.10.316

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