Browse > Article
http://dx.doi.org/10.5734/JGM.2011.8.1.58

A Case of 17q22 with Interstitial Deletion  

Kang, So-Yeon (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Lee, Beom-Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Publication Information
Journal of Genetic Medicine / v.8, no.1, 2011 , pp. 58-61 More about this Journal
Abstract
Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.
Keywords
Chromosome 17 interatitial deletion; Symphalagism; Chromosome disorder;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Mickelson E, Robinson WP, Hrynchak MA, Lewis S. Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24). Am J Med Genet 1997;71:-275-9.   DOI   ScienceOn
2 Rhimizu R, Mitsui N, Cho S, Yamamori S, Osawa M, et al. Cryptic 17q22 deletion in a boy with a t(10;17) (p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. Am J Med Genet 2008;146A:1458-61.   DOI   ScienceOn
3 Puusepp H, Zilina O, Teek R, Mannik K, Parkel S, Kruustuk K, et al. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with trachea-esophageal fistula and conductive hearing loss. Em J Med Genet 2009;52:71-4.   DOI   ScienceOn
4 Marsh AJ, Wellesley D, Burge D, Ashton M, Browne C, Dennis N, et al. Interstitial deletion of chromosome 17(del(17)(q22q23.3)) confirms a link with oesophageal atresia. J Med Genet 2000;37:701-4.   DOI
5 Kang MN, Im IS, Kim BE, Chey MJ, Kim SW. A case of 4q deletion with partial agenesis of corpus callosum. J Korean Pediatr Soc 2002;45:273-7.
6 Kim HH, Basic medical genetics. Seoul : Jungmunkak Co, 1994:229-37.
7 Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A. P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. Eur J Med Genet 2008;51:351-7.   DOI   ScienceOn
8 Van den Ende JJ, Mattelaer P, Declau F, Vanhoenacker F, Claes J, Van Hul E, et al. The facio-audio-symphalangism in the NOG-gene. Clin Cysmorphol 2005;14:73-80.   DOI   ScienceOn
9 Khalifa MM, MacLeod PM, Duncan AMV. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993;44:258-61.
10 Park JP, Moeschler JB, Berg SZ, Bauer RM, Warster- Hill DH. A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant. Clin Genet 1992;41:54-6.
11 Levin ML, Shaffer LG, Lewis RA, Gresic MV, Lupski JR. Unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies. Am J Med Genet 1995;55:30-2.   DOI   ScienceOn
12 Thomas JA, Manchester DK, Prescott KE, Milner R, McGavran L, Cohen, Jr. MM. Hunter-Mcalpine craniosysnostosis phenotype associated with skelectal anomalies and interstitial deletion of chromosome 17q. Am J Med Genet 1996;62:372-5.   DOI   ScienceOn