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Medical Microbiology & Diagnosis

ISSN: 2161-0703

Open Access

Javaria Jamil

Department of Pediatrics, Gulf Medical University, 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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Google Scholar citation report
Citations: 14

Medical Microbiology & Diagnosis received 14 citations as per Google Scholar report

Medical Microbiology & Diagnosis peer review process verified at publons

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