참고문헌
- 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.
- 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.
- 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. https://doi.org/10.1002/ajmg.1320550110
- 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. https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<372::AID-AJMG9>3.0.CO;2-T
- 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. https://doi.org/10.1002/(SICI)1096-8628(19970822)71:3<275::AID-AJMG5>3.0.CO;2-T
- 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. https://doi.org/10.1002/ajmg.a.32319
- 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. https://doi.org/10.1016/j.ejmg.2008.09.006
- 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. https://doi.org/10.1136/jmg.37.9.701
- 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.
- Kim HH, Basic medical genetics. Seoul : Jungmunkak Co, 1994:229-37.
- 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. https://doi.org/10.1016/j.ejmg.2008.02.008
- 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. https://doi.org/10.1097/00019605-200504000-00004