지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제24권 제1호
- 발행연도
- 2019.1
- 수록면
- 60 - 63 (4page)
이용수
초록· 키워드
오류제보하기
Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. She underwent ventilation tube insertion for recurrent otitis media with effusion. Brain magnetic resonance imaging showed an ectopic posterior pituitary gland and a shallow, small sella turcica with poor visualization of the pituitary stalk. Cytogenetic and chromosomal microarray analysis revealed a de novo deletion on the short arm of chromosome 18 (arr 18p11.32p11.21[136,227–15,099,116]x1). She has been treated with recombinant human growth hormone (GH) therapy since the age of 6 months after diagnosis of GH deficiency. Her growth rate has improved without any side effects from the GH treatment. This case expands the phenotypic spectrum of 18p deletion syndrome and emphasizes the positive impact of GH therapy on linear growth in this syndrome characterized by growth deficiency. Further studies are required to define the genotype-phenotype correlation according to size and loci of the deletion in 18p deletion syndrome and to predict prognosis.
목차
등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Turleau C / 2008 / Monosomy 18p / Orphanet J Rare Dis 3:4
Rao VB / 2001 / 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype / Ann Genet 44:187~190
Brenk CH / 2007 / Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation / Eur J Hum Genet 15:35~44
Wester U / 2006 / Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation / Am J Med Genet A 140:1164~1171
Kasasbeh FA / 2011 / Deletion of 18p Syndrome / Lab Med 42:436~438
Rao VB / 2001 / 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype / Ann Genet 44:187~190
Brenk CH / 2007 / Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation / Eur J Hum Genet 15:35~44
Wester U / 2006 / Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation / Am J Med Genet A 140:1164~1171
Kasasbeh FA / 2011 / Deletion of 18p Syndrome / Lab Med 42:436~438
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