BIOMAT Database Logo BIOMAT Database Logo

[Down's syndrome with G/G "tandem" translocation (author's transl)]. 1976

I López Pajares, and E Barreiro, and A Delicado

A three month old male with Down's Syndrome is presented. Cytogenetic studies reveal a count of 46 chromosomes with a G/G "tandem" translocation. New staining techniques show the marker chromosome closed at both ends and with two symmetrical bands.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002904 Chromosomes, Human, 21-22 and Y The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome. Chromosomes G,Group G Chromosomes,Chromosomes, Human, 21 22,Chromosomes, Human, 21-22,Chromosome, Group G,Chromosomes, Group G,Group G Chromosome
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
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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

Related Publications

I López Pajares, and E Barreiro, and A Delicado
Down's syndrome with familial G-G translocation.
January 1969, Acta geneticae medicae et gemellologiae,
I López Pajares, and E Barreiro, and A Delicado
Familial Down's syndrome with G-G translocation.
October 1969, Polish medical science and history bulletin,
I López Pajares, and E Barreiro, and A Delicado
[Sporadic Down's syndrome with isochromosome or translocation 21q/21q (author's transl)].
September 1976, Revista brasileira de pesquisas medicas e biologicas,
I López Pajares, and E Barreiro, and A Delicado
[Cytogenetic and dermatoglyphic studies in Down's syndrome with G-G translocation].
August 1973, Polski tygodnik lekarski (Warsaw, Poland : 1960),
I López Pajares, and E Barreiro, and A Delicado
De-novo G-G-translocation Down's syndrome in two siblings.
August 1969, Lancet (London, England),
I López Pajares, and E Barreiro, and A Delicado
Down's syndrome with G-G translocation and triple-x syndrome in the same sibship.
January 1967, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui,
I López Pajares, and E Barreiro, and A Delicado
Translocation and trisomic Down's syndrome in a family with a familial D-G translocation.
September 1969, Cytologia,
I López Pajares, and E Barreiro, and A Delicado
Down's Syndrome with translocation-en-tandem: a report of two unrelated cases.
March 1970, Australian paediatric journal,
I López Pajares, and E Barreiro, and A Delicado
[Cytogenetical study of patients with Down's syndrome (author's transl)].
March 1976, Lijecnicki vjesnik,
I López Pajares, and E Barreiro, and A Delicado
[Ophthalmologic symptoms of Down's syndrome (author's transl)].
December 1977, Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology,
Copied contents to your clipboard!