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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제22권 제4호
- 발행연도
- 2017.1
- 수록면
- 266 - 271 (6page)
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초록· 키워드
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A 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.
목차
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참고문헌 (19)
참고문헌 신청
Ali O / 2015 / Nelson textbook of pediatrics / Elsevier : 2742 ~
Barbaux S / 1995 / Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata / Hum
Bostwick DG / 2014 / Urologic surgical pathology / Elsevier Helath Sicence : 691 ~
Calzolari E / 1993 / Characterization of a deleted Y chromosome in a male with Turner stigmata / Clin Genet 43 : 16 ~ 22
Eid W / 2016 / Why boys will be boys and girls will be girls: human sex development and its defects / Birth Defects Res C Embryo Today 108 : 365 ~ 379
Barbaux S / 1995 / Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata / Hum
Bostwick DG / 2014 / Urologic surgical pathology / Elsevier Helath Sicence : 691 ~
Calzolari E / 1993 / Characterization of a deleted Y chromosome in a male with Turner stigmata / Clin Genet 43 : 16 ~ 22
Eid W / 2016 / Why boys will be boys and girls will be girls: human sex development and its defects / Birth Defects Res C Embryo Today 108 : 365 ~ 379
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