Smears From the Oral Mucosa in the Detection of Chromosomal Sex

Moore, Keith L.; Barr, Murray L.

doi:10.1016/s0140-6736(55)92161-9

Cited by 250 publications

(42 citation statements)

References 8 publications

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“…Karyotyping became available to our clinic in 1960; from 1953 to 1960, Barr body analysis was performed. 10,11 Karyotyping was used to confirm the genetic sex of participants when originally based on Barr bodies. All participants were 21 years of age or older and had formerly been treated at the Johns Hopkins Pediatric Endocrine Clinic.…”

Section: Methodsmentioning

confidence: 99%

46,XY Intersex Individuals: Phenotypic and Etiologic Classification, Knowledge of Condition, and Satisfaction With Knowledge in Adulthood

et al. 2002

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ABSTRACT. Objectives. The objective of this study was to identify and study adults who have a 46,XY karyotype and presented as infants or children with variable degrees of undermasculinization of their genitalia (female genitalia, ambiguous genitalia, or micropenis). Participants' knowledge of their condition, satisfaction with their knowledge, and desire for additional education about their intersex condition were assessed.Methods. Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Knowledge of medical condition, satisfaction with that knowledge, and desire for additional education were assessed with a written questionnaire and a semistructured interview.Results. Patients were ineligible for recruitment because of death (9%), because of developmental delay (12%), or because they were not located (27%). Among the 96 eligible patients, 78% participated. Approximately half of the men (53%) and women (54%) exhibited a good understanding of their history. Fewer women who have a 46,XY chromosome complement and were born with female genitalia were informed about their intersex condition (36% with complete androgen insensitivity syndrome) than were women who were born with masculinized genitalia such as micropenis (80%) or ambiguous genitalia (72%). More women (66%) than men (38%) were satisfied with their knowledge of their medical and surgical history.Conclusions. Almost half of the patients, reared male or female, were neither well informed about their medical and surgical history nor satisfied with their knowledge. Pediatrics 2002;110(3). URL: http://www. pediatrics.org/cgi/content/full/110/3/e32; intersex, hermaphrodite, gender, androgen insensitivity, gonadal dysgenesis, micropenis, patient satisfaction, patient knowledge.ABBREVIATIONS. CAIS, complete androgen insensitivity syndrome; CGD, complete gonadal dysgenesis; LH, luteinizing hormone; FSH, follicle-stimulating hormone; AR, androgen receptor; PAIS, partial androgen insensitivity syndrome; 17␤-HSD-3, 17␤-hydroxysteroid dehydrogenase-3; PGD, partial gonadal dysgenesis; MIS, mü llerian inhibiting substance.

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Section: Methodsmentioning

confidence: 99%

46,XY Intersex Individuals: Phenotypic and Etiologic Classification, Knowledge of Condition, and Satisfaction With Knowledge in Adulthood

et al. 2002

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“…Keith Moore, who had introduced the buccal smear test (93), surveyed 1,911 newborn males in 1959 and found 5 chromatin-positive males (0.26%). By 1964 a total of 34 cases had been found in 16,463 male newborns in five separate surveys (0.21%).…”

Section: Nuclear Sexing and Klinefelter Syndromementioning

confidence: 99%

Putting Medical Genetics into Practice

Ferguson-Smith

2011

Annu. Rev. Genom. Hum. Genet.

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This article describes a fragment of history on the growing impact of genetics on the practice of medicine over 50 years, as experienced by a medical geneticist who helped to provide services to patients at risk of genetic disorders. It is a personal account influenced by a fascination with chromosomes that has drawn him into many studies, including sex determination, gene discovery, fetal diagnosis, phylogenomics, and karyotype evolution.

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“…Eğer bir nükleer membrana yapışık, kon veks planda, bir kromatine benzer kitle bulunursa veya bir çok ka dın cinsel kromatini varsa, leke kadındır. Az adette cinsel kroma tin bulunuyorsa, lekenin erkek kanına ait leke olduğu tanımını sağlıyabilir (2,3,8). Her ne hal olursa olsun lökositlerin, beyaz küreciklerin tetkikleri gereklidir.…”

Section: İdentifikasyon Tanım Problemleriunclassified

“…Aynı durum Turnerien sendromunda, yani görünüşü kadın fakat dişi kromatinleri negatif olan larda da bahis konusudur (4,6,8,10).…”

Section: İnterseksüel Karışık Cins Hallerindeki Problemlerunclassified

Ci̇nsel Kromati̇ni̇n Adlî Tiptaki̇ Önemi̇

Öztürel¹

1976

Ankara Üniversitesi Hukuk Fakültesi Dergisi

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Cinsel kromatin, seks kromatin (Chromatine sexuelle), 1949 yı lında Barr ve Bertam (1, 2) taraflarından bulunmuşdur. Cinsel kro matin genetik bir cinsiyet belirtisi olan kromozomdur. Bu kromo zomlar, esasen 35 yıldır bilinmektedir. Kedilerin % 40 ında, Hipoglosse sinir gangliyonu hücrelerinde mevcuttur. Zooloklar böcekle rin tanımında, cinsel kromatini kullanmışlardır. Barr'ın buluşu olan Hetero Kromatin (Hetero cromatine) X X kromozomundan başka bir şey değildir. Cinsel kromatin tesbitiyle, cinsiyeti bilinemiyen dokularda cinsiyet tayini yâpılmışdır. Cinsel Kromatin sap tanması, bazı koşulların bulunmasına ve araştırıcının dikkatine bağlıdır. Bu araştırmada, dokunun tabiatı, dokunun muhafaza edilme durumu, preparat hazırlanması için kuplann kesilmesi, bo yama etgili koşullardır. Koşullar ne olurlarsa olsunlar, MOORe, GRAiHAM ve BARR, bu niteliğin çok yararlı olacağı ümidindedir-ler. 1935 yılında derinin epiderm tabakasında, Malpigi hücrelerinin mitotik durumunda, hücre nüvelerinin muayeneleriyle, bir şahsa hermafrodit teşhisi konmuşdur. Kadınlarda % 70 nüve, corpuscule ismi verilen özel bir şekil ihtiva ediyor. Bu corpuscule, erkeklerde °/o 5 oranında bulunuyor. 1955 yılında Moore ve Barr, ağız muko zasından kolaylıkla cinsiyeti tayin etmişlerdir. 1956 yılında Carpenter, Stolte, Visschers, vagina ve üretra hücrelerinde; 1955 yılında Serr, Sachs, Danon, 1963 yılında Fucks (3, 8) amniyotik sıvı, su ke sesi sıvısı santrafüjünden sonra Cinsel Heterokromatini, Sempatik ganğlionlarda, kesin bir şekilde tesbit etmişlerdir.

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Smears From the Oral Mucosa in the Detection of Chromosomal Sex

Cited by 250 publications

References 8 publications

46,XY Intersex Individuals: Phenotypic and Etiologic Classification, Knowledge of Condition, and Satisfaction With Knowledge in Adulthood

46,XY Intersex Individuals: Phenotypic and Etiologic Classification, Knowledge of Condition, and Satisfaction With Knowledge in Adulthood

Putting Medical Genetics into Practice

Ci̇nsel Kromati̇ni̇n Adlî Tiptaki̇ Önemi̇

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