Chromosome 17q duplication associated with 21q telomeric deletion in a female patient with multiple congenital anomalies. Issue 2 (July 2016)

• Record Type: Journal Article
• Authors: Mekkawy, Mona K.; Mazen, Inas M.; Kamel, Alaa K.; Mahmoud, Wael; Mohamed, Amal M.
• Is Part Of: Middle East journal of medical genetics. Volume 5:Issue 2(2016:Jul.)
• Publication Date: 2016-07
• Subjects: 17q duplication -- 21q deletion -- nonallelic homologous recombination -- tandem duplications; Medical genetics -- Periodicals; Medical genetics -- Middle East -- Periodicals; Genetic disorders -- Periodicals; Genetic disorders -- Middle East -- Periodicals; Genetic Diseases, Inborn -- Middle East -- Periodicals; Genetics, Medical -- Middle East -- Periodicals; 616.042
• DOI: 10.1097/01.MXE.0000484367.43852.26
• Languages: English
• ISSNs: 2090-8571

Abstract

Abstract : We report on a female patient with multiple congenital anomalies and dysmorphic features having a de-novo unbalanced karyotype with an extra material on chromosome 21q, which was proved by fluorescence in-situ hybridization analysis to be derived from the distal part of the chromosome 17 long arm, associated with the deletion of the 21q telomeric region. Clinical findings of the patient showed several features similar to the reported patients with distal 17q duplication, in addition to other congenital anomalies. The clinical phenotype is correlated with the cytogenetic abnormality and compared to the reported patients, and the mechanism of the abnormality is suggested.