선천성 거대결장을 동반한 신생아에서 확인된 de novo Proximal 13q 결실의 드문 증례
A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon
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초록
13번 염색체 결실증후군은 비교적 드문 질환으로, 13번 염색체장완의 부분적인 결손에 의한 다양한 표현형을 특징으로 한다. 주요 임상양상은 정신지체, 성장지연, 두부안면기형을 포함한 다양한 선천기형이다. 조직검사로 확인된 선천거대결장을 동반한 신생아에서 de novo 13 (q21.3q31) 중간 결실이 확인되어 보고하고자한다. 정상 핵형을 가진 부모와 환자에서 short tandem repeat 분석법(D13S317)을 시행하였고, 13번 염색체의 결손을 확인하고자peak 양상을 분석하였다. 임상 소견은 문헌과 함께 고찰하였다.
Abstract
Chromosome 13q deletion syndrome, which is relatively rare, is characterized by a wide spectrum of phenotypes resulting from a partial deletion of the long arm of the chromosome 13. The main clinical features are mental retardation, developmental delay, craniofacial dysmorphism, and various congenital defects. Here, we report a de novo interstitial deletion in chromosome 13 (q21.3q31) in a neonate with congenital megacolon (Hirschsprung disease) confirmed by biopsy. A short tandem repeat analysis (D13S317) was used to compare the loci on the chromosomes of the patient and the parents, the latter representing the normal karyotype, to determine how the features of the profile peaks relate to the deletion. The clinical data were also compared with those of similar cases in previously published reports.
참고문헌 (20)
- Lee CO, "One case of 13q-syndrome", Korean J Pediatr, 25, pp.95~99 (1982)
- Chung JY, "A case of nonsyndromic intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion", Korean J Pediatr Gastroenterol Nutr, 4, pp.108~112 (2001)
- Chung JL, "A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition", Yonsei Med J, 42, pp.558~562 (2001)
- 이정렬, "산전 진단된 13번 염색체 장완의 말단결손 1예", Obstetrics & Gynecology Science, 44(10), pp.1931~1936 (2001), 대한산부인과학회
- Hwang SJ, "A case of de novo ring (13) chromosome with deletion 13q33.2→qter", Korean J Obstet Gynecol, 45, pp.323~326 (2002)
- Ko YS, "A case of 13q- syndrome with arthrogryposis multiflex congenita", J Korean Soc Neonatol, 10, pp.103~107 (2003)
- 이상윤, "다발성 선천 기형을 보이는 13(q24) 결실 증후군 1례", Korean Journal of Pediatrics, 47(10), pp.1128~1131 (2004), 대한소아과학회
- Ballarati L, "13q deletion and central nervous system anomalies: Further insights from karyotype-phenotype analyses of 14 patients", J Med Genet, 44, pp.e60~ (2007)
- Kirchhoff M, "Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter", AM J Med Genet A, 149A, pp.894~905 (2009)
- Quélin C, "Twelve new patients with 13q deletion syndrome: Genotypephenotype analyses in progress", Eur J Med Genet, 52, pp.41~46 (2009)
- Tosca L, "Genotype- phenotype correlation in 13q13.3-q21.3 deletion", Eur J Med Genet, 54, pp.e489~e494 (2011)
- Allderdice PW, "The 13q- deletion syndrome", Am J Hum Genet, 21, pp.499~512 (1969)
- Brown S, "Preliminary definition of a “Critical Region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature", Am J Med Genet, 45, pp.52~59 (1993)
- Brown S, "The 13q- syndrome: The molecular definition of the critical deletion region in band 13q32", Am J Hum Genet, 57, pp.859~866 (1995)
- Kutzbach B, "Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome", J AAPOS, 11, pp.513~515 (2007)
- Tüysüz B, "Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the Endothelin-B receptor locus", Am J Med Genet A, 149A, pp.2290~2295 (2009)
- Gariepy CE, "Genetic basis of Hirschsprung disease: implications in clinical practice", Mol Genet Metab, 80, pp.66~73 (2003)
- Amiel J, "Hirschsprung disease, associated syndromes and genetics: a review", J Med Genet, 45, pp.1~14 (2008)
- Broască V, "The correlation of genetic markers with anatomoclinical and histopathological forms in Hirschsprung’s disease", Rom J Morphol Embryol, 51, pp.283~288 (2010)
- Shanske A, "Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13", Am J Med Genet, 102, pp.231~236 (2001)