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http://dx.doi.org/10.5734/JGM.2018.15.2.115

Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

Hyun, Ju Kyung (Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine)
Jung, Yu Jin (Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine)

Publication Information

Journal of Genetic Medicine / v.15, no.2, 2018 , pp. 115-119 More about this Journal

Abstract

The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220- kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.

Keywords

Microarray analysis; Gene deletion; Premature birth;

Citations & Related Records

Reference

1	Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet 2006;79:869-77. DOI
2	Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008;17:628-38.
3	Barge-Schaapveld DQ, Maas SM, Polstra A, Knegt LC, Hennekam RC. The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? Am J Med Genet A 2011;155A:1066-72.
4	Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009;52:77-87. DOI
5	Bamonte L. Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome. Pediatr Phys Ther 2015;27:90-9. DOI
6	Tardivo A, Masotto B, Espeche L, Solari AP, Nevado J, Rozental S. 16p11.2 microdeletion: first report in Argentina. Arch Argent Pediatr 2017;115:e449-53.
7	Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal deletion map of human malformations. Am J Hum Genet 1998;63:1153-9. DOI
8	Fryns JP, Melchoir S, Jaeken J, van den Berghe H. Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21). Hum Genet 1977;38:343-6. DOI
9	Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a firsttier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64. DOI
10	Seo EJ. Clinical applications of chromosomal microarray analysis. J Genet Med 2010;7:111-8. DOI
11	Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R, et al. Candidate-gene screening and association analysis at the autismsusceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet 2005;76:950-66. DOI
12	Hempel M, Rivera Brugues N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, et al. Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. Am J Med Genet A 2009;149A:2106-12. DOI
13	Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010;47:332-41. DOI
14	Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, et al. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med 2010;12:641-7. DOI