염색체 22q13 결실 증후군 1례
A Case of 22q13 Deletion Syndrome
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
저자들은 신생아기부터 발생한 심한 근 긴장저하 및 발달지연, 경한 얼굴이상형태를 보였던 18개월 여아에서, 염색체검사와 ARSA 탐색자를 이용한 FISH로 22q13.3의 결실을 확인한 1례를 경험하였다. 이는 국내 첫 보고이다. 22q13 (또는 22q13.3) 결실증후군을 진단하기가 쉽지는 않은데, 이는 경한 안면기형으로 특징적인 염색체이상증후군을 생각하기 힘들고, 염색체의 결실정도가 대개 미세하여 통상적인 염색체검사에서 발견되지 않기 때문이다. 따라서 신생아기부터 나타나는 근 긴장저하, 성장할수록 뚜렷해지는 운동발달지연 및 심한 표현언어의 지연, 자폐성향의 임상증상을 모두 가진 환아에서, 22q13 결실증후군의 가능성을 생각하고 FISH나 array-based CGH 검사 등을 추가로 시행해야 할 것으로 사료된다.
Abstract
The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to nonspecific facial features and difficulties in detection in routine chromosome analysis, this chromosome deletion syndrome has gone under-diagnosed. Fluorescence in situ hybridization (FISH) is required to confirm the presence of this deletion. Here we report the first case of 22q13 deletion syndrome in Korea. An 18-month-old girl was admitted to a pediatric clinic due to severe developmental delay and hypotonia from the neonatal period. She was diagnosed as 22q13 deletion syndrome through a chromosomal analysis and FISH using arylsulfatase A probe.
참고문헌 (14)
- Philippe A, "Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood", Pediatr, 122, pp.e376~e382 (2008)
- Havens JM, "22q13 deletion syndrome: an update and review for the primary pediatrician", Clin Pediatr, 43, pp.43~53 (2004)
- "Deletion 22q13.3 syndrome"[URL]
- Phelan MC, "A de novo terminal deletion of 22q", Am J Hum Genet, 43, pp.A118~ (1988)
- Nesslinger NJ, "Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q 13.3", Am J Hum Genet, 54, pp.464~472 (1994)
- Phelan MC, "22q13 deletion syndrome", Am J Med Genet, 101, pp.91~99 (2001)
- Manning MA, "Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum", Pediatr, 114, pp.451~457 (2004)
- Bonaglia MC, "Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome", J Med Genet, 43, pp.822~828 (2006)
- Dhar SU, "22q13.3 deletion syndrome: clinical and molecular analysis using array CGH", Am J Med Genet, 152A, pp.573~581 (2010)
- Luciani JJ, "Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations", J Med Genet, 40, pp.690~696 (2003)
- Wilson HL, "Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3", PROSAP2 in the major neurological symptoms, 2003, pp.40, 575~584
- Bonaglia MC, "Disruption of the ProSAP2 gene in a t(12;22) (q24.1;q13.3) is associated with the 22q 13.3 deletion syndrome", Am J Hum Genet, 69, pp.261~268 (2001)
- El-Fishawy P, "The genetics of autism: key issues, recent findings, and clinical implications", Psychiatr Clin North Am, 33, pp.83~105 (2010)
- Barakat AJ, "22q13 deletion syndrome with central diabetes insipidus: a previously unreported association", Clin Dysmorphol, 13, pp.191~194 (2004)