Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6

Hustinx, T. W. J.; Nabben, F. A. E.; Scheres, J. M. J. C.; Francke, Uta

doi:10.1002/ajmg.1320030406

Cited by 21 publications

(6 citation statements)

References 4 publications

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“…The probe tel7q was a gift from J. Dietz-Band, Oncor, Inc. The cell line described in Pai et al [1980] Allderdice et al, 1971 3(3) Ballesta et al, 1980 3(4) Bass et al, 1985 5(6) Bass and Sparkes, 1979 4(4) Berger et al, 1974Bijlsma et al, 1978Burns et al, 1986 4(4) Creasy et al, 1974 3(3) Dallapiccola et al, 1976 3(3) Evans et al, 1984 3(4) Fredga and Hall, 1970 3(3) Fujita et al, 1974 3(3) Gardner et al, 1986 3(3) Gorski et al, 1988 4(6) 3(4) Handmaker et al, 1975 4(4) Hustinx et al, 1979Masuno et al, 1993Mattei et al, 1979Meer et al, 1981Muneer et al, 1981Palmer et al, 1976Sanchez et al, 1974…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

1994

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A complex chromosome rearrangement (CCR) involving chromosomes 7, 8, and 13 was detected in a phenotypically normal woman ascertained through her mentally retarded son with abnormal phenotype. He had a karyotype with 47 chromosomes including an extra der(13). In initial banding studies the CCR in the mother was interpreted as a three-way translocation. Fluorescence in situ hybridization with whole chromosome libraries and a telomere-specific probe was used to better characterize the rearrangement. Combined data allowed us to reinterpret the CCR as a translocation and an insertion. A review of 35 familial CCRs involving at least three chromosomes led to the following observations: 1) familial CCRs tend to have fewer chromosomes involved and fewer break-points than do de novo CCRs; 2) familial transmission is mainly observed through female carriers although the origin of de novo cases is paternal; 3) an apparent excess of balanced female carriers among the offspring of index carriers was noted; and 4) meiotic segregation resulting in malformed liveborn infants is most frequently due to adjacent-1 segregation, followed by 4:2 segregation; no adjacent-2 segregation was observed.

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Section: Discussionmentioning

confidence: 99%

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

1994

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“…As expected from such a large duplication, there is a wide variety of malformations reported, including cardiac defects [Chen et al, 1979;Neu and Cardner, 1973;Hustinx et al, 1979;Van den Berghe et al, 19731, microphthalmia and coloboma of the iris, cleft lip, and palate, omphalocele and malrotation [Hustinx et al, 19791, abnormal biliary system [Hustinx et al, 1979;Van den Berghe et al, 19731, renal malformation [Van den Berghe et al, 19731, cerebral and cerebellar defects [Chen et al, 1979;Norwood and Hoehn, 1974;Garret et al, 19791. Correlation of phenotypes between the presented case and those previously reported with a similar duplication ( Table I ) appears rather high.…”

Section: Discussionmentioning

confidence: 98%

Clinical variability of partial duplication 1q: A clinical report and literature review

1987

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A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t(1;18)(q25;p11). Her chromosome constitution was 46,XX,-18,der18,t(1;18)(q25;p11)pat, namely, partial duplication 1q25----qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.

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“…Partial trisomies of chromosome 1 have been reported in over 20 individuals [Bonfante et al, 1978;Bourrouillou et al, 1978;Dallapiccola et al, 1980;Flatz and Fonatsch, 1979;Garret et al, 1975;Geraedts et al, 1980;Hustinx et al, 1979;Leisti and Aula, 1981;Neu and Gardner, 1973;Liberfarb et al, 1979;Norwood and Hoehn, 1974;Palmer et al, 1977;Rehder and Friedrich, 1979;Schinzel, 1981;Steffensen et al, 1977;Taysi and Sekhon, 1978;Van Den Berghe et al, 1973;Yunis et al, 19771 all involving parts of the long arm and due to translocations involving chromosome 1. Only two appear to be caused by a tandem duplication [Flatz and Fonatsch, 1979;Dallapicola et al, 19801.…”

Section: Introductionmentioning

confidence: 99%

“…The case of Geraedts et a1 [I9801 questionably involved a small centromeric part of the l p and the entire Iq. Several patients had complex chromosome rearrangements rather than pure duplications of chromosome 1 [Yunis et al, 1977;Hustinx et al, 1979;Schinzel, 19811. The patient reported here presented with a previously unknown association of several malformations and was found to have an unusual duplication (lp) .…”

Section: Introductionmentioning

confidence: 99%

Tandem dup(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies

et al. 1984

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A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31----35). The karyotype designation is 46,XY,dir dup(pter----31::p35----p31::p31----qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.

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Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6

Cited by 21 publications

References 4 publications

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

Clinical variability of partial duplication 1q: A clinical report and literature review

Tandem dup(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies

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