Results 91 to 100 of about 1,849 (152)

A 46,XY Female With Mixed Gonadal Dysgenesis and a 48,XY, +7, +i(12p) Chromosome Pattern in a Primary Gonadal Tumor

, 1991
Cytogenetic analysis of a primary germ-cell tumor originating from the streak gonad of a 20-year-old phenotypic female with a 46,XY karyotype and mixed gonadal dysgenesis revealed a 48,XY,+7,+i(12p) chromosomal pattern.
de Jong, B., Oosterhuis, J.W., Bosman, F., HAMERS, A, VANECHTEN, J, DEJONG, B, Evers, J., SUIJKERBUIJK, RF, Hamers, A., EVERS, J, VANKESSEL, AG, van Kessel, A.G., Suijkerbuijk, R.F., BOSMAN, F, OOSTERHUIS, JW, van Echten, J.   +15 more
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Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis

Gonadoblastomas are rare mixed germ cell neoplasms, which are frequently diagnosed in testes excised for other reasons. In human patients these tumours are usually associated with undescended testes or dysgenetic gonads.
Reis-Filho, Jorge S., Gärtner, F., Ricardo, S., Schmitt, F. C.   +3 more
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The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis

, 2018
Some patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY, are known to manifest complications characteristic of Turner syndrome.
Megumi Hatano, Ryuji Fukuzawa, Yukihiro Hasegawa   +2 more
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Mixed gonadal dysgenesis: histological and ultrastructural findings in two cases.

, 1996
Mixed gonadal dysgenesis (MGD) is an intersex genetic abnormality characterized by a streak gonad and a contralateral testis (that is typically cryptorchid) or bilateral streak testes. A uterus and one or both fallopian tubes also may be present.
VALENTE, MARIALUISA, CALABRESE, FIORELLA
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Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report

Frontiers in Bioscience-Scholar
Background: The 47,XYY syndrome is a genetic condition found in about 1 in 1000 male children. The expected phenotype is male but could vary greatly.
Marcelo Jones Pires, Laura Coimbra Teixeira, Luise Longo Angeloni, Julia Londero Heleno, Mariana Romano, Marcio Lopes Miranda, Tarsis Paiva Vieira, Mara Sanches Guaragna, Beatriz Amstaldem Barros, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior   +10 more
doaj   +1 more source

A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation

, 1993
We report a case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. An eight month-old patient was admitted to our endocrinology department for evaluation of ambiguous genitalia.
Ozen, E., Buyukgebiz, A., Ünsal, Şevket, Akcoral, A., Ören, Hale, Sakizli, M.   +5 more
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Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development

, 2015
Disorders of sex development (DSD) are a generic definition including any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads.
ABACI, AYHAN, Catli, Gonul, BERBEROĞLU, MERİH   +2 more
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Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype

Journal of Rare Diseases
Introduction Wilms tumor 1 (WT1)-related disorders are a group of hereditary disorders caused by alterations in the WT1 gene. WT1 expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen.
Heba A. Hassan, Inas Mazen, Mona K. Mekkawy, Aya Elaidy, Alaa Kamel, Mona L. Essawi   +5 more
doaj   +1 more source

Mixed Gonadal Dysgenesis in Triple Mosaicism with Non-Fluorescent Y Chromosome

A 16-month-old male infant with ambiguous genitalia is reported. Karyotype of the patient revealed a 45, X/46, Xyq-/47, Xyq-Yq-mosaicism in blood and 45, X/47, Xyq-Yq- in gonadal tissue.
Yokoyama, Hiroshi, Yanagisawa, Satoshi
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A Clinico-hormonal and Cytogenetic Studies in Patients with Gonadal Dysgenesis

, 1984
의학과/석사[영문] [한글] 1974년 1월부터 1983년 8월까지 연세대학교 의과대학 부속병원 산부인과학교실에서 성 선발육부전 질환이 의심된 43예중 20예에 대하여 세포유전학 연구와 임상 및 내분비학적 연구를 시행하여 다음과 같은 결과를 얻었다. Ⅰ) 성선발육부전 환자에 대한 세포유전학 연구 결과 Turner 중 후군은 15예(75%) 이었 으며, 이중 전형적 Turner 군(45, XO)이 4예, 모자이시즘이 11예였고, 순수성,
이영진
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