Studies on a family with three cytogenetic markers

Jacobs, Patricia A.; Brunton, Muriel; Frackiewicz, Anna; Newton, Marjorie; Cook, P. J. L.; Robson, Elizabeth B.

doi:10.1111/j.1469-1809.1970.tb01658.x

Cited by 48 publications

(30 citation statements)

References 2 publications

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“…Subsequently, other individuals with two de novo translocations have been reported by Bell and Warburton [1977], Stoll et al [1979], Chewings et a1 [1982], and Lieber and Shah [ 19821, and an individual with three de novo reciprocal translocations was observed by Watt and Couzin [1983]. Several other reports concern individuals who received a Robertsonian translocation from one parent and a reciprocal translocation from the other [Jacobs et al, 1970[Jacobs et al, , 1974Hansen et al, 19831 or a different reciprocal translocation from each of two carrier parents [de Grouchy et al, 19721.…”

Section: Discussion Two Translocationsmentioning

confidence: 91%

Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

Walker

Bocian

1987

Am. J. Med. Genet.

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We report on two sibs with duplication of the segment 8q12----8q21.2 resulting from malsegregation of a maternal insertional translocation: [inv ins (5;8)(p13;q12q21.2)]. The mother also carries a reciprocal translocation [t(1;6)(q31;q5)], which was transmitted in the balanced state to the propositi and to a phenotypically normal son and daughter. The literature on two translocations occurring in one individual and on insertional rearrangements is reviewed in terms of reproductive risks to balanced carriers. The two affected infants have a previously undescribed partial duplication of an interstitial segment of 8q and a pattern of abnormalities distinct from those seen in other partial duplications of 8. These infants are reviewed with 78 other cases of partial duplications of chromosome 8 with regard to phenotype-karyotype correlations.

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Section: Discussion Two Translocationsmentioning

confidence: 91%

Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

Walker

Bocian

1987

Am. J. Med. Genet.

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“…However, this can be done in one particular family where a balanced chromosomal translocation t(1:11)(q42.2;q14) segregates with major psychiatric illness including schizophrenia and affective disorders, described by Jacobs et al (1970), StClair et al (1990) and Blackwood et al (2001). Significant linkage was found between the translocation and a phenotype that included schizophrenia and affective disorder and two novel genes directly disrupt-ed by the breakpoint on chromosome 1, termed Disrupted in Schizophrenia 1&2 (DISC1 and DISC2), along with other functionally related genes, are strong candidates for a role in major mental illnesses (Millar et al, 2000).…”

Section: P300 As An Endophenotype In An Extended Family Where a Chrommentioning

confidence: 99%

Clinical phenotypes associated with DISC1, a candidate gene for schizophrenia

Blackwood

Muir

2004

neurotox res

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Genetic factors play an important part in the development of schizophrenia and bipolar disorder, and linkage analyses in families have successfully identified several chromosomal regions containing candidate genes. A single large pedigree has been described in which schizophrenia and depression segregate with a balanced chromosomal translocation involving the long arm of chromosome 1 and the short arm of chromosome 11. The gene named DISC1, disrupted at the chromosome 1 breakpoint, is a novel candidate gene that may have a role in the pathogenesis of schizophrenia. The cellular location and function of the protein coded by DISC1 is currently being investigated. The phenotype associated with DISC1 in the t (1;11) translocation family includes schizophrenia, schizoaffective disorder, recurrent major depression and bipolar disorder. Hence this locus is one of several now reported apparently showing linkage to both schizophrenia and bipolar disorder. The study of intermediate phenotypes or "endophenotypes" may clarify the relations between phenotype and genotype. Auditory event related potentials are EEG based physiological measures widely studied in schizophrenia. In particular the cognitive evoked potential, the P300 response generated during an "odd-ball" two-tone discrimination task consistently shows reduced amplitude in schizophrenia compared to controls. In members of the family with the t (1;11) translocation, P300 amplitude was reduced in relatives who carried the translocation compared to relatives with a normal karyotype. Furthermore the amplitude reduction was independent of the presence or absence of symptoms because asymptomatic translocation carriers showed similar P300 amplitude reduction as was found in translocation carriers who were diagnosed with schizophrenia, bipolar disorder or unipolar depression. The results confirm that subjects with schizophrenia who carry the t (1;11) translocation have similar phenotype to unrelated subjects with schizophrenia and a normal karyotype. Furthermore P300 amplitude may be a useful intermediate phenotype detecting the neuropathology of schizophrenia in "at risk" individuals even in the absence of clinical symptoms.

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“…Mating between translocation carriers has been documented in 15 couples: 3 in whom both spouses had Fbbertsonian translocations [Orye and Delire, 1967;Dallapiccola et al, 1983;Martinez-Castro et al, 19841,4 in whom one had a Fbbertsonian translocation, and one with a reciprocal translocation [Jacobs et al, 1970;Dallapiccola et al, 1983;Scarbrough et al, 1985;Gilgenkranz et al, 19851 and 8 in whom both had reciprocal translocations [de Grouchy et al, 1972;Simoni et al, 1980;Mulcahy and Watson, 1983;Barros et al, 1987;Bowser-Riley et al, 1988;Wilmot et al, 1990;Telvi et al, 1992 and the present case]. Four of these couples were consanguineous [Simoni et al, 1980;Dallapiccola et al, 1983;Martinez-Castro et al, 1984;Wilmot et al, 19901.…”

Section: Discussionmentioning

confidence: 78%

Reproductive risk in mating between two translocation carriers: Case report and review of the literature

et al. 1993

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We conducted a study to determine the reproductive risk in a couple who were translocation carriers. This couple, who carried balanced reciprocal translocations, experienced habitual abortions. The wife had a karyotype of 46,XX,t(7;13)(p15.3;q12.3) and the husband of 46,XY,t(1;7)(p11.1;p11.1). Chromosome study of their fourth abortus demonstrated a chimera consisting of two cell lines with a 46,XY and a 46,XX,t(1;7)(p11.1;p11.1)pat, -13, + der(7)t(7;13)(p15.3;q12.3)mat, karyotype. A review of the literature indicates that the risk of having unbalanced live offspring or of spontaneous abortion/stillborns is similar in couples in whom both were translocation carriers and in couples in whom one individual was a translocation carrier. The apparent lack of increased reproductive failure may result from the selective disadvantage of aneusomic gametes at fertilization or very early spontaneous abortions of unbalanced conceptuses.

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Studies on a family with three cytogenetic markers

Cited by 48 publications

References 2 publications

Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

Clinical phenotypes associated with DISC1, a candidate gene for schizophrenia

Reproductive risk in mating between two translocation carriers: Case report and review of the literature

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