[Clinical and cytogenetic analysis of 257 cases of Down's syndrome]. 1991

C Astete, and R Youlton, and S Castillo, and C Be, and V Daher
Departamento de Medicina, Hospital ClĂ­nico, Universidad de Chile.

Among 257 patients with clinical diagnosis of Down's syndrome, 56.4% of male gender, in whom cytogenetic studies were performed, 14 (5.4%) had normal karyotypes and 243 (94.6%) had 21 trisomy. Of these last, 225 (92.6%) had free 21 trisomy, 10 (4.1%) showed mosaics, 8 (3.3%) had translocations. Average maternal age of this sample was significantly higher than that of patients attending the same maternity wards (32.14 vs. 24.85 years) and 41% of Down syndrome's patients came from mothers aged 36 years or more, even though only 9.7% of this country's deliveries proceed from women of that age group. As to seasonal occurrence, the proportions of births which happened in summer almost doubled that of winter (33.1% vs. 16.9%). The frequency of characteristic clinical signs of Down's syndrome was somewhat different than that described for patients from some other countries, for instance: epicanthus, short neck and widening of the space between 1st. and 2nd. toe were more frequent, while Brushfield's spots, depressed occiput, dental anomalies, heart malformations and fissured tongue seemed less frequent. The importance of cytogenetic studies for diagnosis and genetic counseling is stressed.

UI MeSH Term Description Entries
D008297 Male Males
D008423 Maternal Age The age of the mother in PREGNANCY. Age, Maternal,Ages, Maternal,Maternal Ages
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D002677 Chile A country in southern South America, bordering the South Pacific Ocean, between Argentina and Peru.
D003582 Cytogenetics A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE. Cytogenetic
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012621 Seasons Divisions of the year according to some regularly recurrent phenomena usually astronomical or climatic. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed) Seasonal Variation,Season,Seasonal Variations,Variation, Seasonal,Variations, Seasonal
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic

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