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A boy with 46,X,+mar presenting gynecomastia and short stature

DC FieldValueLanguage
dc.contributor.author정모경-
dc.contributor.author채현욱-
dc.contributor.author권아름-
dc.contributor.author김호성-
dc.contributor.author김예진-
dc.date.accessioned2020-07-16T16:46:30Z-
dc.date.available2020-07-16T16:46:30Z-
dc.date.issued2017-12-
dc.identifier.issn2287-1012-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/178304-
dc.description.abstractA 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageEnglish-
dc.publisherKorean Society of Pediatric Endocrinology-
dc.relation.isPartOfANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHGynecomastia-
dc.subject.MESHMarker chromosome-
dc.subject.MESHMicrodeletion-
dc.subject.MESHY chromosome-
dc.titleA boy with 46,X,+mar presenting gynecomastia and short stature-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아청소년과학교실)-
dc.contributor.googleauthorKi Eun Kim-
dc.contributor.googleauthorYe Jin Kim-
dc.contributor.googleauthorMo Kyoung Jung-
dc.contributor.googleauthorHyun-Wook Chae-
dc.contributor.googleauthorAh Reum Kwon-
dc.contributor.googleauthorWoo Jung Lee-
dc.contributor.googleauthorDuk-Hee Kim-
dc.contributor.googleauthorHo-Seong Kim-
dc.identifier.doi10.6065/apem.2017.22.4.266-
dc.contributor.localIdA03599-
dc.contributor.localIdA04026-
dc.contributor.localIdA04026-
dc.contributor.localIdA00228-
dc.contributor.localIdA00228-
dc.contributor.localIdA01184-
dc.contributor.localIdA01184-
dc.relation.journalcodeJ00175-
dc.identifier.eissn2287-1292-
dc.identifier.pmid29301188-
dc.contributor.alternativeNameJung, Mo Kyung-
dc.contributor.affiliatedAuthor정모경-
dc.contributor.affiliatedAuthor채현욱-
dc.contributor.affiliatedAuthor채현욱-
dc.contributor.affiliatedAuthor권아름-
dc.contributor.affiliatedAuthor권아름-
dc.contributor.affiliatedAuthor김호성-
dc.contributor.affiliatedAuthor김호성-
dc.citation.volume22-
dc.citation.number4-
dc.citation.startPage266-
dc.citation.endPage271-
dc.identifier.bibliographicCitationANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.22(4) : 266-271, 2017-12-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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