Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations

Meer, Barbara; Wolff, Gerhard; Back, Elke

doi:10.1007/bf00278717

Cited by 43 publications

(27 citation statements)

References 21 publications

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“…They also differed from the points seen in Mendelian conditions with increased chromosome breakage (Fanconi anemia, Bloom syndrome). These findings dispute the hypothesis that certain chromosome sites have Fitzgerald et al, 1977Couzin et al, 1983Fitzgerald, 1974Meer et al, 1981Fryns et al, 1984Turleau et al, 1981Gorski et al, 1982Kleczkowska et al, 1982Catti and Schmid, 1971McGavran et al, 1982Martinetti and Noel. 1973 lp32.1, lp34.…”

Section: Discussionmentioning

confidence: 55%

Complex chromosome rearrangements and congenital anomalies

et al. 1987

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Congenital complex chromosome rearrangements (CCR) compatible with life are rare in man. Thus patients with CCR usually present considerable diagnostic difficulties both clinically and cytogenetically. We studied a 12-year-old mentally retarded male with minor congenital anomalies as described below and his first-degree relatives. The propositus had an unbalanced karyotype with eight break points and seven derivative chromosomes; two deletions, del(6) (q25----qter) and del(14) (q31----qter), and four translocations, t(2;11), t(5;15), t(6;11), t(6;20) were present. Parental chromosomes were normal; however, the mother had a few metaphases with abnormal chromosomes suggestive of chromosome instability. These findings and a review of reported patients with CCR are presented with regard to speculations about etiology, pathogenesis, phenotypic expression, and prognosis. Physicians should be aware of CCR and broader indications for cytogenetic studies appear warranted in view of these data.

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Section: Discussionmentioning

confidence: 55%

Complex chromosome rearrangements and congenital anomalies

et al. 1987

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“…It has been estimated that interchromosomal insertions occur ten times less frequently than reciprocal or Robertsonian translocations [Chudley et al, 19741, although numerous reports now exist [Gray et al, 1972;Grace et al, 1972;RethorC et al, 1972;Shapiro and Warburton, 1972;Berger et al, 1974;Toomey et al, 1978;Back et al, 1979;Hittner et al, 1979;Riccardi et al, 1979;Yunis and Ramsey, 1980;Meer et al, 1981;Bowen et al, 19831. Reproductive outcome of insertion heterozygotes. Nearly all insertions have proved to be familial, and at least 114 pregnancy outcomes of six male and 22 female carriers have been documented.…”

Section: Insertional Rearrangementmentioning

confidence: 98%

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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“…A transmission of a CCR is unlikely, either because the offspring's phenotype is abnormal, or because fertility is reduced. Transmission of a CCR from a balanced carrier is very rare, but a few cases have been reported (Meer et al, 1981;Gorski et al, 1988;). …”

confidence: 99%

De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature

Weise

Rittinger²,

Starke

et al. 2003

Cytogenet Genome Res

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We report on a moderately mentally retarded 12-year-old boy of short stature showing the most complex chromosomal rearrangement (CCR) within a single chromosome ever described. A de novo derivative chromosome 21 was recognized in GTG-banding shortly after birth. However, the nature of the rearrangement remained obscure up to the application of the chromosome 21-specific centromere-near multicolor-FISH (subcenM-FISH) probe set and of six selected locus-specific probes along chromosome 21. An unbalanced 9-break-event was uncovered with breakpoints in 21p13, 21p13→12, 21q11.2, 21q21.1, 21q22.11, 21q22.11, 21q22.12, 21q22.22 and 21q22.3. A deletion of 21q22.11 was detected by application of the BAC probe bk249H10. The karyotype can be described as 46,XY,der(21)(:p13→p1213::q22.3→q22.22:: q11.2→p1213::q11.2→q21.1::q22.11→q21.1::q22.12→ q22.22::p13→p13). The clinical signs can either be due to gene inactivation in connection with structural changes at the break and fusion regions, to the building of new fusion genes within the CCR and/or to the deletion of genes in 21q22.11.

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Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations

Cited by 43 publications

References 21 publications

Complex chromosome rearrangements and congenital anomalies

Complex chromosome rearrangements and congenital anomalies

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

De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature

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