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

다국어 초록 (Multilingual 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.

국문 초록 (Abstract)

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.

참고문헌 (Reference)

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