A 21/21 tandem translocation with satellites on both long and short arms

Schuh, Barbara E.; Korf, Bruce R.; Salwen, Martin J.

doi:10.1136/jmg.11.3.297

Cited by 9 publications

(3 citation statements)

References 11 publications

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“…This patient was previously reported (Karukaya and Yokoyama, 1980). The gene locus for superoxide dismutase -1 (SOD-1) has been assigned to chromosome 21, g22.1 (Vogel et al 1970;Vogel, 1972;Schuh et al 1973;Niebuhr, 1974;Sinet et al 1976;Hagemei jer and Smit, 1977).…”

Section: Discussionmentioning

confidence: 97%

Chromosomal abnormalities in a selected population in Kurume.

Karukaya

1990

Kurume Med. J.

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patients and 35 adults who visited Kurume University Medical Center. Chromosomal aberrations were detected in 187 out of the 1042 (18%) children. These 187 children exhibited at least 108 types of symptoms or syndromes which were suggestive of chromosomal aberrations. Chromosomal aberrations were suspected in 757 pediatric patients who presented with 22 types of symptoms or syndromes. Among these 757, a total of 187 patients with chromosomal aberrations were identified , resulting in an overall incidence of 24.7°0 (187/757) . Autosomal aberrations were demonstrated in 150 out of 672 children in whom autosomal aberrations had been suspected, yielding a detection ratio of 22 .3% (150/672), whereas sex chromosome aberrations were found in 37 patients out of 85 who were suspected of possible sex chromosome aberrations, with a detection rate of 43.5% (37/85). The detection rate of chromosome aberrations was almost 20 to 30 times higher than that in the random surveys carried out by others in general newborn populations.This high detection rate suggests that a high incidence of chromosomal aberrations may be encountered in medical centers to which patients at risk with respect to chromosomal aberration syndromes are referred by local physicians. Chromosomes were analyzed also in a total of 37 adults , consisting of 26 women and 9 men, who had had abortions.The age at which abortions had occurred ranged from 23 to 39 years in women , and 25 to 35 years in men, respectively. Twelve women and 6 men out of the 35 people exhibited normal karyotypes. The satellite associations of D group and G group chromosomes were observed in 15 out of the 35 people.

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Section: Discussionmentioning

confidence: 97%

Chromosomal abnormalities in a selected population in Kurume.

Karukaya

1990

Kurume Med. J.

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“…Laurent et al (1978) have seen one terminal fusion between two chromosomes 18. Only six terminal fusion between two chromosomes 21 are known (Sachdeva et al 1971;Vogel 1972;Schuh et al 1974;Harvey et al 1977;Cantu et al 1980;Turleau et al 1980). In our case the rearranged chromosome is dicentric, with one of the centromeres inactivated.…”

Section: Discussionmentioning

confidence: 97%

A case of Down's syndrome resulting from mirror duplication of chromosome 21

1982

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“…In the early 1970's banding techniques became available which allowed differentiation of specific segments of chromosomes (Sumner et al 1971, Schnedl 1974and Comings et al 1975. Several subsequent case reports described patients with features of Down syndrome in whom banding studies displayed partial trisomy 21 (Aula et al 1973, Schuh et al 1974, Wahrman et al 1974, Chen et al 1976, Epstein & Epstein 1976, Sinet et al 1976, Cervenka et al 1977, Hagemeijer & Smith 1977, Pfeiffer et al 1977, Verma et al 1977. Careful studies of these patients' karyotypes uncovered that additional chromosomal material, in particular, segments 21q21.1 and 21q22.2 are responsible for the Down syndrome phenotype.…”

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Partial trisomy 21

1980

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This report presents an 18½‐year‐old patient with clinical features of Down syndrome and severe mental retardation due to partial trisomy 21. Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,−8, +t(8qter 8p23::21q21 21 qter)). It is recommended that patients with features of Down syndrome whose chromosome analysis was done prior to introduction of banding studies undergo repeat karyotyping.

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A 21/21 tandem translocation with satellites on both long and short arms

Cited by 9 publications

References 11 publications

Chromosomal abnormalities in a selected population in Kurume.

Chromosomal abnormalities in a selected population in Kurume.

A case of Down's syndrome resulting from mirror duplication of chromosome 21

Partial trisomy 21

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