Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The problem of whether to improve on the physical appearance of children with Down's syndrome by means of plastic surgery is a much debated question which involves bio-ethical and ideological concepts. In this research, the opinions of a group (n = 132) of Italian elementary and junior school teachers are investigated on the basis of a questionnaire. Data are analysed through the application of log-linear models, and parameter estimates are calculated for each response category and interactions between response categories and types of teachers. Results show a greater acceptance of children with Down's syndrome as they are by people who have daily experience of them and who can get to know them better from all points of view. On the other hand, plastic surgery for children with Down's syndrome is considered with more favour by people who are less psychologically involved with them.
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PMID:Teachers' attitudes towards plastic surgery in children with Down's syndrome. 153 66

Chromosome analysis of a newborn boy with Down syndrome resulted in the identification of a family with an unusual derivative chromosome 22. The child has 46 chromosomes, including two chromosomes 21, one normal chromosome 22, and a derivative chromosome 22. Giemsa banding and fluorescent in situ hybridization (FISH) studies show that the derivative chromosome is chromosome 22 with evidence of both paracentric and pericentric inversions, joined to the long arm of chromosome 21 from 21q21.2 to qter. The rearrangement results in partial trisomy 21 extending from 21q21.2 to 21q terminus in the patient. The child's mother, brother, maternal aunt, and maternal grandmother are all carriers of the derivative chromosome. All have 45 chromosomes, with one normal chromosome 21, one normal chromosome 22, and the derivative chromosome 22. The rearrangement results in the absence of the short arm, the centromere, and the proximal long arm of chromosome 21 (del 21pter-21q21.2) in carriers. Carriers of the derivative chromosome in this family have normal physical appearance, mild learning disabilities and poor social adjustment.
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PMID:Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22. 918 81

Artistic representation of malformation syndromes has been of ongoing interest, often as a point of departure for discussion of medical history. We have identified a 16th-century Flemish Nativity painting in which one angelic figure appears distinctly different from other individuals in the painting with an appearance of Down syndrome. Several prior observers have identified Down syndrome in premodern art, sometimes stimulating ongoing discussions concerning its history, its prevalence, and its relationship to hypothyroidism. This may be one of the earliest European representations of Down syndrome. The depiction of an individual with Down syndrome as an angel raises several questions regarding the status of such an individual in late medieval times and societal recognition of minor anomalies, as contrasted with major malformations, in their predictive value for disabilities. In contrast, Langdon Down's description of the condition occurred only after evolution of concepts regarding the clinical significance of physical appearance and measurement.
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PMID:An angel with Down syndrome in a sixteenth century Flemish Nativity painting. 1505 91

Members of the Mongol imperial family (designated the Golden family) are buried in a secret necropolis; therefore, none of their burial grounds have been found. In 2004, we first discovered 5 graves belonging to the Golden family in Tavan Tolgoi, Eastern Mongolia. To define the genealogy of the 5 bodies and the kinship among them, SNP and/or STR profiles of mitochondria, autosomes, and Y chromosomes were analyzed. Four of the 5 bodies were determined to carry the mitochondrial DNA haplogroup D4, while the fifth carried haplogroup CZ, indicating that this individual had no kinship with the others. Meanwhile, Y-SNP and Y-STR profiles indicate that the males examined belonged to the R1b-M343 haplogroup. Thus, their East Asian D4 or CZ matrilineal and West Eurasian R1b-M343 patrilineal origins reveal genealogical admixture between Caucasoid and Mongoloid ethnic groups, despite a Mongoloid physical appearance. In addition, Y chromosomal and autosomal STR profiles revealed that the four D4-carrying bodies bore the relationship of either mother and three sons or four full siblings with almost the same probability. Moreover, the geographical distribution of R1b-M343-carrying modern-day individuals demonstrates that descendants of Tavan Tolgoi bodies today live mainly in Western Eurasia, with a high frequency in the territories of the past Mongol khanates. Here, we propose that Genghis Khan and his family carried Y-haplogroup R1b-M343, which is prevalent in West Eurasia, rather than the Y-haplogroup C3c-M48, which is prevalent in Asia and which is widely accepted to be present in the family members of Genghis Khan. Additionally, Tavan Tolgoi bodies may have been the product of marriages between the lineage of Genghis Khan's Borjigin clan and the lineage of either the Ongud or Hongirad clans, indicating that these individuals were members of Genghis Khan's immediate family or his close relatives.
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PMID:Molecular Genealogy of a Mongol Queen's Family and Her Possible Kinship with Genghis Khan. 2762 54