Chromosomes in the Cornelia de Lange syndrome

Beck, Bente; Mikkelsen, Margareta

doi:10.1007/bf00295457

Cited by 39 publications

(20 citation statements)

References 24 publications

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“…Our survey confirmed many of the findings previously documented in BDLS including absence of speech [Barr et al, 1971;Beck, 1976;Berg et al, 1970;Johnson et al, 19761, feeding [Barr et al, 1971;Beck, 1976;Begemen and Duggan, 19761 and behavioral p e r g et al, 1970;Johnson et al, 1976;Greenberg and Colesman, 19731 problems, and dental abnormalities [Barr et al, 1971, Begemen andDuggan, 1976;Berg et al, 19701. We also noted the presence of genital abnormalities in males and hearing loss.…”

Section: Discussionsupporting

confidence: 88%

“…Although a recurrence risk of 2-5% has been reported [Pashayan et al, 19691 and there have been case reports of concordance between monozygotic twins for BDLS [Choo and Bianchi, 1965;Mot1 and Opitz, 19711, no clearcut genetic cause has been established for the BDLS syndrome. Although there is some phenyotypic overlap of BDLS and the dup(3q) syndrome [Beck and Mikkelson, 1981;Wilson et al, 19781, these entities are distinct [Breslau et al, 1981;Francke and Opitz, 19791 and clinically distinguishable.…”

Section: Introductionmentioning

confidence: 99%

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Sixty‐four patients with Brachmann–de Lange syndrome: A survey

et al. 1985

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We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange Syndrome (CDLS) Foundation, comprised of families who have a relative with BDLS. We surveyed 64 families by questionnaire and personally examined 24 of the 64. Our data suggest that lower birth weight correlates with a more severe phenotype, specifically including severe upper limb malformations and greater psychomotor retardation. The lower birth weight group showed a significant excess of females. The miscarriage rate was normal and there were no recurrences reported in the 64 families we surveyed. Major management problems included feeding problems and projectile vomiting, behavioral problems including frequent tantrums, hearing and dental difficulties, and recurrent respiratory tract infections. The oldest, teenaged subjects in our study entered puberty; although pregnancy has not been reported in the syndrome, it is likely that people with BDLS are fertile. Though most BDLS children reared at home survive through adolescence, a significant degree of psychomotor retardation and difficult medical management problems still occur.

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Section: Discussionsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Sixty‐four patients with Brachmann–de Lange syndrome: A survey

et al. 1985

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“…In cases in which the chromosome abnormality has a well-described associated phenotype (e.g., 45,X/46,XX or 45,X/46,XY), the CdLS phenotype is likely unrelated to the chromosome abnormality. Another such example is the case of an individual with a 46,XY,t(13q;14q) karyotype that was also found in the mother and maternal grandmother, both of whom were phenotypically normal [Beck and Mikkelsen, 1981]. In other cases, the phenotype associated with the abnormality has not been well described or may simply have features that overlap with CdLS.…”

Section: Discussionmentioning

confidence: 99%

Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

DeScipio

Kaur

Yaeger

et al. 2005

American J of Med Genetics Pt A

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Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in ∼50% of individuals with CdLS. Numerous chromosomal rearrangements have been reported in individuals with CdLS. These rearrangements may be causative of a CdLS phenotype, result in a phenocopy, or be unrelated to the observed phenotype. We describe two half siblings with a der(3)t(3;12)(p25.3;p13.3) chromosomal rearrangement, clinical features resembling CdLS, and phenotypic overlap with the del(3)(p25) phenotype. Region‐specific BAC probes were used to fine‐map the breakpoint region by fluorescence in situ hybridization (FISH). FISH analysis places the chromosome 3 breakpoint distal to RP11‐115G3 on 3p25.3; the chromosome 12 breakpoint is distal to BAC RP11‐88D16 on 12p13.3. A review of published cases of terminal 3p deletions and terminal 12p duplications indicates that the findings in these siblings are consistent with the del(3)(p25) phenotype. Given the phenotypic overlap with CdLS, we have reviewed the reported cases of chromosomal rearrangements involved in CdLS to better elucidate other potential loci that could harbor additional CdLS genes. Additionally, to identify chromosome rearrangements, genome‐wide array comparative genomic hybridization (CGH) was performed on eight individuals with typical CdLS and without identifiable deletion or mutation of NIPBL. No pathologic rearrangements were identified. © 2005 Wiley‐Liss, Inc.

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“…The highly characteristic phenotype in this disorder has led many to speculate on a genetic basis, but almost all cases are sporadic. 3 17 Reports of affected sib pairs are rare and several are open to question on diagnostic grounds. The likely significance of the de novo translocation reported here is enhanced by the involvement of the long arm of chromosome 3.…”

Section: Discussionmentioning

confidence: 99%