A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics

Roca‐Rada, Xavier; Tereso, Sofia; Rohrlach, Adam B; Brito, André; Williams, M. P.; Umbelino, Cláudia; Curate, Francisco; Souilmi, Yassine; Amorim, António; Carvalho, Pedro; Llamas, Bastien; Teixeira, João C.

doi:10.1016/s0140-6736(22)01476-3

Cited by 11 publications

(7 citation statements)

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“…To estimate the genetic sex, we compare the overall fraction of reads mapping to the X and Y chromosomes for each individual, denoted and , as in Roca-Rada et al 62 . Individuals that fell within the cluster with the mean, indicating no Y chromosome, are assigned as genetically female, and the remaining individuals are assigned as genetically male.…”

Section: Methodsmentioning

confidence: 99%

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Rohrlach,

Rivollat,

de-Miguel-Ibáñez

et al. 2024

Nat Commun

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Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice.

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Section: Methodsmentioning

confidence: 99%

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Rohrlach,

Rivollat,

de-Miguel-Ibáñez

et al. 2024

Nat Commun

Self Cite

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“…The difficulty of estimating the sex based on osteology increases in intersex individuals. Recently, a 1000-year-old case of Klinefelter's syndrome was published (Roca-Rada et al 2022), highlighting the importance of genomics to sex and gender studies in past populations. Sex estimations are even more problematic in non-adults; thus, in this field, genomics plays a determinant role by providing sex chromosome information, even in fragmented human remains.…”

Section: Sex and Gender In Past Societiesmentioning

confidence: 99%

“…The first aDNA study supporting a palaeopathological diagnostic of a congenital anomaly was published in 2017 (Boer et al 2017) and detected a mutation of the FGFR3 gene in tooth material from a museological achondroplastic skeleton. Since then, the number of genetic studies on human skeletons with genetic disorders has been increasing (e.g., Shaw et al 2019;Roca-Rada et al 2022).…”

Section: Congenital Anomalies and Kinshipmentioning

confidence: 99%

Family in Medieval Society: A Bioarchaeological Perspective

Gomes,

Curto

2024

Genealogy

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One of the periods with the greatest social, cultural, and religious changes was, without a doubt, the European medieval period. The concept of “Family” was one of the fields that gradually evolved, from individuals who shared the same biological lineage, to members of the same “House”. One of the ways to study the concept of “Family” in ancient periods is through a bioarchaeological perspective, where both anthropology and genetics have proven to be essential disciplines for studying “Families”. Through burial rituals, observing whether the graves were single or multiple, as is carried out in the study of human remains, we discuss the profound contribution of anthropology to the “Family” investigation, through mobility studies, the investigation of biological sex, observing certain congenital anomalies or, even, the study of certain ancient infectious diseases. Concerning genetics, the study of bones or teeth allows us to determine whether individuals were from the same close family or if they belonged to the same lineage through the maternal and paternal sides, being one of the only scientific ways of proposing social relationships between individuals, such as that created through adoption.

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“…В обеих группах случаев велика вероятность формирования половых органов промежуточного типа или же полностью женского фенотипа гениталий. Схожие фенотипические проявления могут возникать и при различных хромосомных патологиях (Roca-Rada et al, 2022). Несмотря на то что каждый синдром сам по себе достаточно редок, группа нарушений, приводящих к формированию фенотипических отклонений, велика, что повышает вероятность встретить его в древности.…”

Section: результаты и обсуждениеunclassified

Microblades in the Context of Lithic and Bone Industries of the Late Mesolithic and the Early Neolithic at Zamostje 2 (1995–1997 Excavations)

Лозовская,

Такташева

2023

Краткие Сообщения Института Археологии (КСИА)

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Начиная с верхнего палеолита широкое распространение получает вкладышевая техника, которая продолжает свое развитие в мезолите и неолите. На основе выборки из раскопок 1995–1997 гг. стоянки Замостье 2 был проведен анализ коллекции кремневых микропластин из слоев позднего мезолита и раннего неолита, который позволил выявить изделия со вторичной обработкой, а также сделать некоторые выводы о назначении микропластин и об их распространении. Целью работы являлось определение уровня развития микропластинчатой техники на материале исследуемого памятника, в задачи входит оценка роли микроинвентаря в контексте каменной и костяной индустрии. Для анализа использовались археологические методы исследования: сравнительно-типологический, статистический и технологический. Под термином «микропластина» мы понимали широкий спектр сколов с отношением длины к ширине 2:1 и выше, а также с шириной менее 12 мм. Всего было изучено 572 артефакта из позднемезолитического слоя и 338 из ранненеолитического. В результате исследования было установлено, что микропластинчатая техника на стоянке Замостье 2 имела ограниченное распространение, чаще всего сколы являлись случайными. Микропластины со вторичной обработкой типологически представляли собой индивидуальные формы изделий, немногочисленные в обоих изученных слоях. Микропластины на стоянке использовались в качестве вкладышей в костяную или роговую основу, в некоторых случаях служили заготовкой для создания наконечников стрел. Starting from the Upper Paleolithic, microblade technology came into widespread use and continued its development throughout the Mesolithic and the Neolithic. Using a sample of items from the excavations carried out at the Zamostje 2 site in 1995– 1997, an assemblage of flint microblades originating in the Late Mesolithic and the Early Neolithic layers was analyzed, which made it possible to identify retouched items as well as derive some conclusions on the purposes the microblades were used for and their distribution. The aim of this paper is to determine the development level of microblade technology using the materials from the studied site, and its task is to assess the role of microtools in the context of lithic and bone industries. The analysis employed archaeological methods of research such as comparative-typological, statistical and technological methods. The ‘microblade’ term was meant to include a broader range of knapped fragments with a length-to-width ratio of 2:1 and above and the width of not less than 12 mm. In total, 572 artifacts from the Late Mesolithic and 338 artifacts from the Early Neolithic layers were examined. The study found that microblading technology at Zamostje 2 had limited application; in most cases, chopping was not intentional. Typologically, retouched microblades were items of individual forms, both excavated layers yielded few of such items. At the site, microblades were used as insets into a bone or horn base and in some cases served as blanks for making arrowheads.

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A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics

Cited by 11 publications

References 0 publications

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Family in Medieval Society: A Bioarchaeological Perspective

Microblades in the Context of Lithic and Bone Industries of the Late Mesolithic and the Early Neolithic at Zamostje 2 (1995–1997 Excavations)

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