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A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

  • Cho, Joo Hyun (Department of Pediatrics, Chonnam National University Hospital) ;
  • Song, Eun Song (Department of Pediatrics, Chonnam National University Hospital) ;
  • Kim, Hee Na (Department of Pediatrics, Chonnam National University Hospital) ;
  • Oh, Burm Seok (Department of Pediatrics, Chonnam National University Hospital) ;
  • Choi, Young Youn (Department of Pediatrics, Chonnam National University Hospital)
  • Received : 2013.05.07
  • Accepted : 2013.10.07
  • Published : 2014.06.10

Abstract

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

Keywords

References

  1. Mankinen CB, Sears JW, Alvarez VR. Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female. Birth Defects Orig Artic Ser 1976;12:131-6.
  2. Juberg RC, Haney NR, Stallard R. New deletion syndrome: 1q43. Am J Hum Genet 1981;33:455-63.
  3. van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, et al. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet A 2005;135:91-5.
  4. Huh CY, Choi HJ, Kim SB, Lee S, Lim SJ, Yang MH. 1 Case of chromosome 1q deletion with sialoblastoma and hepatoblastoma in neonate. Korean J Obstet Gynecol 1999;42:175-8.
  5. Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, et al. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications. Am J Med Genet A 2003;117A:251-4.
  6. Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, et al. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 2007;81:292-303.
  7. Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, et al. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A 2007;143A:1692-8.
  8. Merritt JL 2nd, Zou Y, Jalal SM, Michels VV. Delineation of the cryptic 1qter deletion phenotype. Am J Med Genet A 2007;143:599-603.
  9. Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, et al. Two new cases of pure 1q terminal deletion presenting with brain malformations. Am J Med Genet A 2008;146A:1241-7.
  10. Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, et al. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet 2012;20:176-9.
  11. Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tonnies H, van 't Slot R, et al. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet 2010; 53:179-85.
  12. Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet 2012;131:145-56.
  13. Thierry G, Beneteau C, Pichon O, Flori E, Isidor B, Popelard F, et al. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A 2012;158A:1633-40.
  14. Understanding chromosome disorders. Unique. 1q4 deletions: from 1q42 and beyond [Internet]. Oxford: Unique/The Rare Chromosome Disorder Support Group; c1996-2014 [cited 2013 Mar 10]. Available from: http://www.rarechromo.org/information/chromosome%20%201/1q4%20deletions%20ftnw.pdf.
  15. Ioan DM, Maximilian C, Kleczkowska A, Fryns JP. Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome. Ann Genet 1992;35:167-9.

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