Describing new syndromes
Tags: DOWN syndrome; TRISOMY; INTELLIGENCE levels
Related Articles
- Dr. Down's Syndrome. Gould, Stephen Jay // Natural History;Apr80, Vol. 89 Issue 4, p142
Comments on the use of the term Down's syndrome, Mongolian idiocy or Mongolism to describe trisomy-21. Racism in science; Racist association between Orientals and the physical manifestations of trisomy-21; Historical background on the creation of the term Down's syndrome for trisomy-21.
- Down's syndrome. Gath, Ann // Journal of the Royal Society of Medicine;May1994, Vol. 87 Issue 5, p276
The article reports on Down's Syndrome. It is the easily recognized state related to significant learning disability. Factors that affect adaptive behavior are birth weight, absence of behavior disorders and IQ and age while factors that do not influence the outcome include place in the family,...
- Brief Report: Autism in Individuals with Down Syndrome. Starr, Elizabeth M.; Berument, Sibel Kazak; Tomlins, Megan; Papanikolaou, Katerina; Rutter, Michael // Journal of Autism & Developmental Disorders;Oct2005, Vol. 35 Issue 5, p665
As an off-shoot of a study examining the reliability and validity of an adapted version of the Pre-Linguistic Autism Diagnostic Observation Schedule (A-PL-ADOS), 13 individuals with Down syndrome with IQs ranging between 24 and 48 were administered the Autism Diagnostic Interview-Revised (ADI-R)...
- Echogenic intracardiac focus: What does it mean, what should you tell your patient? BROMLEY, BRYANN // Contemporary OB/GYN;Jun2009, Vol. 54 Issue 6, p48
The article offers information on echogenic intracardiac focus (EIF). It refers to a sonographic soft marker which can be used in identifying aneuploidy, particularly Down syndrome and trisomy 13. EIF has been observed in approximately 5% of second-trimester ultrasound examinations, prompting...
- Molecular diagnostics of Down syndrome using quantitative apex microarrays. E., Oitmaa; K., Krjutskov; R., M�gi; R., Andreson; E., Raukas; M., Remm; N., T�nisson; M., Schneider; A., Metspalu // Reproductive BioMedicine Online (Reproductive Healthcare Limited;Apr2008 Supplement 3, Vol. 16, pS-17
Objective: Trisomy 21 is the most frequent chromosomal aneuploidy affecting approximately one in 700 live births. Therefore it is very important to develop new, fast and reliable methods for prenatal diagnosis of trisomy 21. Here we demonstrate one tube multiplex PCR with universal primer...
- Seeking other disorders within antenatal serum screening programmes for Down's syndrome. Wald, N.J.; Canick, J.A. // Journal of Medical Screening;Dec2002, Vol. 9 Issue 4, p145
Editorial. Illustrates how to search for other disorders, such as trisomy 18, within antenatal serum screening programs for Down's syndrome. Birth prevalence of trisomy 18; Increase in the amniocentesis rate with an associated increase in fetal loss and cost; Effect of adding a separate...
- An unusual cluster of babies with Down's syndrome born to former pupils of an Irish boarding school. Sheenan, Patricia M.E.; Hillary, Irene B. // British Medical Journal (Clinical Research Edition);11/12/1983, Vol. 287 Issue 6403, p1428
Examines the cluster of babies with Down's syndrome in Ireland. Occurrence of illness similar to influenza; Reports of the trisomic clustering; Transmission of radioactive iodine and Polonium 210 via milk of the cow and food chain; Monitor on milk supplies for radioactivity.
- Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Loane, Maria; Morris, Joan K; Addor, Marie-Claude; Arriola, Larraitz; Budd, Judith; Doray, Berenice; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsøyr Melve, Kari; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; O'Mahony, Mary; Queißer-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Salvador, Joaquin // European Journal of Human Genetics;Jan2013, Vol. 21 Issue 1, p27
This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009...
- Identification of dysregulated genes in lymphocytes from children with Down syndrome. Sommer, Cesar A.; Pavarino-Bertelli, Erika C.; Goloni-Bertollo, Eny M.; Henrique-Silva, Flavio // Genome;Jan2008, Vol. 51 Issue 1, p19
The molecular mechanisms by which trisomy of human chromosome 21 disrupts normal development are not well understood. Global transcriptome studies attempting to analyze the consequences of trisomy in Down syndrome (DS) tissues have reported conflicting results, which have led to the suggestion...
