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A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

DC Field Value Language
dc.contributor.author박민수-
dc.contributor.author최승훈-
dc.contributor.author최종락-
dc.date.accessioned2016-02-19T11:04:59Z-
dc.date.available2016-02-19T11:04:59Z-
dc.date.issued2001-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/142356-
dc.description.abstract"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental & growth retardation, malformation of brain & heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36+4 weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.-
dc.description.statementOfResponsibilityopen-
dc.format.extent558~562-
dc.relation.isPartOfYONSEI MEDICAL JOURNAL-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAbnormalities, Multiple/genetics*-
dc.subject.MESHAnus, Imperforate/complications*-
dc.subject.MESHChromosomes, Human, Pair 13/genetics*-
dc.subject.MESHFatal Outcome-
dc.subject.MESHGene Deletion*-
dc.subject.MESHHumans-
dc.subject.MESHInfant, Newborn-
dc.subject.MESHMale-
dc.subject.MESHPenis/abnormalities*-
dc.subject.MESHScrotum/abnormalities*-
dc.titleA Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorJae Lim Chung-
dc.contributor.googleauthorJong Rak Choi-
dc.contributor.googleauthorMin Soo Park-
dc.contributor.googleauthorSeung Hun Choi-
dc.identifier.doi10.3349/ymj.2001.42.5.558-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01468-
dc.contributor.localIdA04103-
dc.contributor.localIdA04182-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid11675686-
dc.subject.keywordchromosomes 13-
dc.subject.keyworddeletion-
dc.subject.keywordimperforate anus-
dc.subject.keywordpenoscrotal transposition-
dc.contributor.alternativeNamePark, Min Soo-
dc.contributor.alternativeNameChoi, Seung Hoon-
dc.contributor.alternativeNameChoi, Jong Rak-
dc.contributor.affiliatedAuthorPark, Min Soo-
dc.contributor.affiliatedAuthorChoi, Seung Hoon-
dc.contributor.affiliatedAuthorChoi, Jong Rak-
dc.rights.accessRightsfree-
dc.citation.volume42-
dc.citation.number5-
dc.citation.startPage558-
dc.citation.endPage562-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.42(5) : 558-562, 2001-
dc.identifier.rimsid30940-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers

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