| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| A Serra, C Brahe, A Millington-Ward, G Neri, B Tedeschi, F Tassone, R Bov. Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:1981475. |
the incidence of down syndrome (ds) families where one of the parents is an heterozygous carrier of pericentric inversion of the heterochromatic region of chromosome 9-inv(9) (qh) - was determined in 3 independent groups of 100 families each. |
1991-04-16 |
2023-08-11 |
Not clear |
| M B Petersen, L Tranebjaerg, M K McCormick, N Michelsen, M Mikkelsen, S E Antonaraki. Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149934. |
patient mp01 had mild mental retardation, facial findings characteristic of down syndrome (ds), and a terminal duplication of chromosome 21. |
1991-04-16 |
2023-08-11 |
Not clear |
| A Serra, G Ner. Trisomy 21: conference report and 1990 update. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149935. |
they centered around four major foci: the genotype, the phenotype, the pathogenesis of down syndrome (ds), and the down person. |
1991-04-16 |
2023-08-11 |
human |
| C Brahe, F Tassone, A Moscetti, A Millington-Ward, R Bova, A Serr. Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149938. |
the parental origin of the extra chromosome 21 (or extra 21q) was determined in seven informative families with a down syndrome (ds) child by using molecular polymorphisms. |
1991-04-16 |
2023-08-11 |
Not clear |
| P Strigini, M Pierluigi, G L Forni, R Sansone, S Carobbi, M Grasso, F Dagna Bricarell. Effect of x-rays on chromosome 21 nondisjunction. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149939. |
in a series of 156 females and 149 males with a down syndrome (ds) child, a case-control study was performed to evaluate the effect of abdominal-pelvic exposure to diagnostic x-rays prior to conception on nondisjunction (nd). |
1991-04-16 |
2023-08-11 |
Not clear |
| A Serra, R Bov. Acrocentric chromosome double NOR is not a risk factor for Down syndrome. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149941. |
(american journal of human genetics 37:1049-1061, 1985) predicted a high risk of down syndrome (ds) children for parents carrying a double nor on acrocentric chromosomes. |
1991-04-16 |
2023-08-11 |
human |
| E S Sachs, M G Jahoda, F J Los, L Pijpers, J W Wladimirof. Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149943. |
the recurrence risk for down syndrome (ds) is about 1% in case of a previous offspring with trisomy 21 and minimal in case of a de novo (21;21) translocation. |
1991-04-16 |
2023-08-11 |
Not clear |
| B Tedeschi, P Vernole, D Caporossi, B Nicolett. Chromosome fragile sites in Down syndrome patients. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149945. |
we report on the fragile site expression in lymphocytes from 16 down syndrome (ds) men aged 24 to 52 years. |
1991-04-16 |
2023-08-11 |
human |
| H M Shafik, W W Au, E B Whorton, M S Legato. Distribution of X-ray-induced chromosome breakpoints in Down syndrome lymphocytes. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149946. |
down syndrome (ds) individuals are known to be predisposed to develop leukemia and their lymphocytes are highly sensitive to the induction of chromosome aberrations by x-rays. |
1991-04-16 |
2023-08-11 |
Not clear |
| G Palka, M Ciccotelli, G Sabatino, G Calabrese, P Guanciali Franchi, L Stuppia, G Parruti, C Di Virgilio, O Di Sant. Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149948. |
we report on a cytogenetic study of 100 subjects with down syndrome (ds), diagnosed from 1980 to 1988, and their parents. |
1991-04-16 |
2023-08-11 |
human |
| A G Ugazio, R Maccario, L D Notarangelo, G R Burgi. Immunology of Down syndrome: a review. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149949. |
subjects with down syndrome (ds) have a high mortality due to infections and a high risk of developing malignancies. |
1991-04-16 |
2023-08-11 |
human |
| A Cossarizza, D Monti, G Montagnani, C Ortolani, M Masi, M Zannotti, C Francesch. Precocious aging of the immune system in Down syndrome: alteration of B lymphocytes, T-lymphocyte subsets, and cells with natural killer markers. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149950. |
phenotype and proliferative ability of peripheral blood lymphocytes from 15 noninstitutionalized children affected with down syndrome (ds), in apparently good health, were studied and compared with those of 16 healthy control children of the same age. |
1991-04-16 |
2023-08-11 |
human |
| P Musiani, S Valitutti, F Castellino, L M Larocca, N Maggiano, M Piantell. Intrathymic deficient expansion of T cell precursors in Down syndrome. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149951. |
to correlate the intrinsic cellular immunodeficiency, which is a major cause of increased susceptibility to polytopic infections in down syndrome (ds) patients, with the histologic abnormalities observed in the thymus of these patients, we have studied thymus fragments and thymocyte cell suspensions from 15 non-institutionalized ds subjects. |
1991-04-16 |
2023-08-11 |
human |
| L M Larocca, L Lauriola, F O Ranelletti, M Piantelli, N Maggiano, R Ricci, A Capell. Morphological and immunohistochemical study of Down syndrome thymus. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149952. |
the incidence and severity of various histologic changes were studied in the thymuses from 35 down syndrome (ds) patients. |
1991-04-16 |
2023-08-11 |
Not clear |
| M Murphy, M J Lempert, L B Epstei. Decreased level of T cell receptor expression by Down syndrome (trisomy 21) thymocytes. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149954. |
individuals with down syndrome (ds) have an enhanced susceptibility to viral and bacterial infections. |
1991-04-16 |
2023-08-11 |
Not clear |
| R T Zori, D A Schatz, H Ostrer, C A Williams, R Spillar, W J Rile. Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149955. |
the extent to which autoimmunity contributes to thyroid dysfunction in down syndrome (ds) individuals has not been clarified. |
1991-04-16 |
2023-08-11 |
human |
| F Licastro, C Melotti, R Parente, L J Davis, M Chiricolo, M Zannotti, F Barbon. Derangement of non-specific immunity in Down syndrome subjects: low leukocyte chemiluminescence activity after phagocytic activation. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149956. |
metabolic activation of peripheral blood leukocytes (chemiluminescence) from 27 children with down syndrome (ds) and 23 age and sex-matched control children after phagocytic stimulation by opsonized zymosan particles was investigated through a chemiluminescence assay. |
1991-04-16 |
2023-08-11 |
human |
| G W Dewald, J L Diez-Martin, S L Steffen, R B Jenkins, P J Stupca, E O Burger. Hematologic disorders in 13 patients with acquired trisomy 21 and 13 individuals with Down syndrome. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149957. |
to study the role of trisomy 21 in hematologic malignancies, we investigated the hematologic disorders of 13 patients with acquired trisomy 21 and 13 individuals with down syndrome (ds). |
1991-04-16 |
2023-08-11 |
Not clear |
| T S Papas, D K Watson, N Sacchi, S Fujiwara, A K Seth, R J Fisher, N K Bhat, G Mavrothalassitis, S Koizumi, C L Jorcy. ETS family of genes in leukemia and Down syndrome. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149958. |
these genes are located on chromosome 21 and molecular genetic analysis of down syndrome (ds) patients with partial trisomy 21 suggested that ets2 may be a gene within the minimal ds genetic region. |
1991-04-16 |
2023-08-11 |
mouse |
| F Mitelman, S Heim, N Mandah. Trisomy 21 in neoplastic cells. American journal of medical genetics. Supplement. vol 7. 1991-04-16. PMID:2149959. |
the 52 leukemic down syndrome (ds) cases account for 1.4% of the total acute leukemias, an overrepresentation that parallels the generally increased risk of leukemia development in ds. |
1991-04-16 |
2023-08-11 |
human |