Translocation in De Lange's Syndrome ?

Craig, AnnP.; Luzzatti, Luigi

doi:10.1016/s0140-6736(65)90803-2

Cited by 25 publications

(6 citation statements)

References 6 publications

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“…In the survivors, successful reunion of chromosomes produced either apparently normal karyotypes, or apparently balanced rearrangements [e.g. cases of G eudeke et al, 1963;and Craig and Luzzatti, 1965], rarely minimally unbalanced karyotypes (as in the ring C-autosome of our patient S.V.) with little effect on the BDL phenotype.…”

Section: Phenotypic Considerationsmentioning

confidence: 86%

Studies of Malformation Syndromes XXVA

Motl¹,

Opitz²

1971

Hum Hered

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The statistical analysis of phenotypic data available on 180 cases of the Brachmann-de Lange syndrome (BDLS), (161 previously published, 19 personally studied) documented the incomplete nature of most case reports, and the fact that investigators are more likely to mention abnormal traits than normal traits in their reports; it did not uncover evidence of (etiologically pertinent) heterogeneity of the BDL phenotype. The finding of a C-autosomal ring in one of our patients and the available genetic and cytogenetic data are discussed in the context of the hypothesis that the BDLS is recessively inherited and that the homozygous state of this incompletely recessive gene predisposes to early zygotic chromosome breakage and/or chromosome loss which is lethal in most cases. The hypothesis of autosomal recessive inheritance is further strengthened by the discovery of a new BDL case (PM) at Central Wisconsin Colony in Madison (courtesy Dr. E. G. Kaveggia); this 35-year-old woman was the product of an uncle/niece marriage.

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Section: Phenotypic Considerationsmentioning

confidence: 86%

Studies of Malformation Syndromes XXVA

Motl¹,

Opitz²

1971

Hum Hered

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“…While the chromo somal defects may be secondary to the biochemical defects, the varieties of aneuploidy which arise are undoubtedly directly responsible for some of the sequelae, such as the frequent malignancies. A high frequency of ab normal chromosomes has also been reported for De Lange's syndrome (67) and for Kostmann's disease (206 In a study of persons with different complements of sex chromosomes, Alter (10) found that the greater the number of X and Y chromosomes, the lower the total finger ridge count. He suggested that this resulted from an increased frequency of arches.…”

Section: Etiology Of Chromosome Aberrationsmentioning

confidence: 87%

Human Genetics

Sutton

1967

Annu. Rev. Genet.

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Studies of human heredity have advanced in many areas and have con tributed to the understanding of basic genetic mechanisms. To enumerate all the advances is beyond the scope of the assignment (and the abilities of the reviewer), not to mention the page limitations imposed by the editors. Those papers discussed here are a sample, hopefully not random, of de velopments primarily in 1965 and 1966. This period was selected in part be cause of the excellent review of human genetics assembled for the Cold Spring Harbor Symposium in 1964 (64).

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“…Unlike the t(3;17) translocation patient who has severe upper limb reduction deformities [Ireland et al, 1991], severe limb abnormalities were not evident in the t(14;21) case [Wilson et al, 1983]. In addition, another classical patient with a balanced de novo translocation affecting chromosome 2 and either chromosome 10 or 12 was reported by Craig and Luzzatti [1965]. Despite the variety of different chromosome abnormalities associated with confirmed classical CdLS patients, there is no evidence that the disease predisposes to an unduly high susceptibility to chromosome breakage.…”

Section: Discussionmentioning

confidence: 99%

Exclusion of linkage to theCDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

et al. 2001

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Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicate autosomal dominant inheritance. Several individuals with CdLS have been reported with chromosomal abnormalities, suggesting candidate genomic regions within which the causative gene(s) may lie. A CdLS gene location (CDL1) has been assigned to 3q26.3 based on phenotypic overlap with the duplication 3q syndrome (critical region 3q26.2-q27) and the report of a CdLS individual with a balanced de novo t(3;17)(q26.3;q23.1). It has been postulated that a gene within the dup3q critical region results in the CdLS when deleted or mutated. We have performed a linkage analysis to the minimal critical region for the dup3q syndrome (that encompasses the translocation breakpoint) on chromosome 3q in 10 rare familial cases of CdLS. Nineteen markers spanning a region of approximately 40 Mb (37 cM) were used. Results of a multipoint linkage analysis demonstrated total lod-scores that were negative across the chromosome 3q26-q27 region. In 4/10 families, lod-scores were less than -2 in the 2 cM region encompassing the translocation, while in the remaining 6/10 families, lod-scores could not exclude linkage to this region. These studies indicate that in some multicase families, the disease gene does not map to the CDL1 region at 3q26.3.

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Translocation in De Lange's Syndrome ?

Cited by 25 publications

References 6 publications

Studies of Malformation Syndromes XXVA

Studies of Malformation Syndromes XXVA

Human Genetics

Exclusion of linkage to theCDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

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