Human cytogenetics at Johns Hopkins Hospital, 1959-1962.

An account is given of the introduction of human cytogenetics to the Division of Medical Genetics at Johns Hopkins Hospital, and the first 3 years' work of the chromosome diagnostic laboratory that was established at the time. Research on human sex chromosome disorders, including novel discoveries in the Turner and Klinefelter syndromes, is described together with original observations on chromosome behavior at mitosis. It is written in celebration of the centenary of the birth of Victor McKusick, the acknowledged father of Medical Genetics, who established the Division and had the foresight to ensure that it included the investigation of human chromosomes.

Shifting syndromes: Sex chromosome variations and intersex classifications.

The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter's syndromes should be included. This article explores initial descriptions of Turner and Klinefelter's syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and 'sort out' intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex - such as those proposed by the intersex activists - have the potential to do more justice to the lived experience of those affected by such classifications and their consequences.

[Charles II of Spain, the bewitched]. / Carlos II de España, El hechizado

The death of King Charles II, the Bewitched, ended two centuries of sovereignity of the Habsburg dynasty in Spain. Since his birth in 1661, he presented a peculiar set of physical, psychiatric and behavioral signs, such as respiratory and diarrheal diseases, recurrent seizures and deep developmental delay. It was not until his adulthood when his infertility became evident, being incapable of conceiving a heir, even though he married twice. Such a constellation of ominous signs motivated a curious investigation, which concluded that the king was hexed at the age of 14 years in order to take away his throne, his health and his capacity to procreate. Based on contemporary medical knowledge, it is possible that Charles IIhad a rare autosomal recessive inherited genopathy asa consequence of the frequent inbreeding among his ancestors. On the other hand, its is also possible that Charles II presented Klinefelter Syndrome, the most frequent sex chromosome disorder in humans and the most common cause of hypogonadism and infertility in males. The hypothesis that Charles II was bewitched reflects a deep belief in supernatural phenomena among the Castilian society at the beginning of the 18th century, an idea transmitted across generations, currently present in many societies worldwide.

Estudio citogenético en individuos con Síndrome de Klinefelter / citogenético Study in individuals with syndrome of Klinefelter

El Síndrome de Klinefelter (SK) afecta a aproximadamente 1 de cada 1000 varones nacidos vivos y se produce por la prescencia de más de un cromosoma X. Si bien el cariotipo característico de este desorden es 47,XXY existen otras variantes menos comunes. En este estudio se presenta el análisis citogenético realizado en linfocitos de sangre periférica de veinte y tres individuos afectados de SK, con el objeto de determinar las avriantes de este desorden genético. Se encotró que el 69,6 por ciento de individuos afectos presentan el carotipo 47,XXY; el 17 por ciento presentó mosaicos: 46,XY/47,XXY: y el restante 13 por ciento otras variantes: 46,XY/47,XXY,+microcromosoma (?); 48,XXYY: 49,XXXXY...

Klinefelter's syndrome: historical background and development.

When described more than 40 years ago, Klinefelter's syndrome (small testes, sterility, increased excretion of follicle-stimulating hormone, and usually gynecomastia) was thought to be an endocrine disorder. A second testicular hormone was postulated but has never been isolated. During the ensuing years, the syndrome has been found to be a chromosomal disorder, in which there is an extra X chromosome in 80% of the patients. The disorder occurs once in 500 to 1,000 male births and is best diagnosed by a buccal smear. When there is androgen deficiency, it is treated with testosterone. Gynecomastia is treated surgically because of the potential danger of malignancy or for cosmetic reasons.