Familial partial trisomy of the long arm of chromosome 3 (3q).

Fear, Claudine; Briggs, Allen

doi:10.1136/adc.54.2.135

Cited by 31 publications

(10 citation statements)

References 3 publications

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“…Our patient had characteristic symptoms of partial trisomy of the distal portion of 3q. Unilateral anophalmia was reported in the case of Fear and Briggs (1979). Microphthalmia, however, is a hitherto unreported finding in partial trisomy 3q and is not mentioned in the review of ocular findings in partial trisomy 3q by Chrousos et al (1988).…”

Section: Resultsmentioning

confidence: 70%

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

et al. 1991

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We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.

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Section: Resultsmentioning

confidence: 70%

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

et al. 1991

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“…A further refinement of the critical region to the 13q34 band is suggested by several less well-mapped 13q deletions with an NTD. Fear [1979] reported on an infant with lumbar myelomeningocele and karyotype 46,XX,der(13)t(3;13)(q21;q34) mat, leading to hemizygosity for 13q34. However, the presence of distal 3p trisomy complicates this case.…”

Section: Discussionmentioning

confidence: 98%

Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34

Luo¹,

Balkin²,

Stewart³

et al. 2000

Am. J. Med. Genet.

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Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the deletion breakpoint was mapped to a 350-kb region between D13S274 and D13S1311 and was paternal in origin. An analysis of 13q deletions with NTDs, including the present case, suggests that a deletion in 13q33-34 is sufficient to cause an NTD. The deletions associated with NTDs are distal to and nonoverlapping with the previously defined critical region in 13q32 for the major malformation syndrome [Brown et al., 1999: Am J Hum Genet 57: 859-866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency.

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“…The identification of additional Dlg binding partners and the generation of new mutant dlg alleles will further clarify the biological functions of the various protein-protein interacting domains of Dlg and the molecular mechanisms involved in craniofacial and palatal morphogenesis. Interestingly, human Dlg is localized to chromosome 3q29 (2, 4), a region that is duplicated in partial trisomy 3q syndromes which commonly display craniofacial defects (6,34). Thus, the phenotype exhibited by the dlg gt /dlg gt mutant mice makes dlg a candidate gene for the craniofacial defects associated with these human disorders.…”

Section: Discussionmentioning

confidence: 99%

Craniofacial Dysmorphogenesis Including Cleft Palate in Mice with an Insertional Mutation in the discs large Gene

Caruana

Bernstein

2001

Molecular and Cellular Biology

140

135

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The discs large (Dlg) protein, or synapse-associated protein 97 (SAP97), is a member of the membraneassociated guanylate kinase family of multidomain scaffolding proteins which recruits transmembrane and signaling molecules to localized plasma membrane sites. Murine dlg is the homologue of the Drosophila dlg tumor suppressor gene. The loss of dlg function in Drosophila disrupts cellular growth control, apicobasal polarity, and cell adhesion of imaginal disc epithelial cells, resulting in embryonic lethality. In this study, we isolated a mutational insertion in the murine dlg locus by gene trapping in totipotent embryonic stem cells. This insertion results in a truncated protein product that contains the N-terminal three PSD-95/DLG/ZO-1 domains of Dlg fused to the LacZ reporter and subsequently lacks the src homology 3 (SH3), protein 4.1 binding, and guanylate kinase (GUK)-like domains. The Dlg-LacZ fusion protein is expressed in epithelial, mesenchymal, neuronal, endothelial, and hematopoietic cells during embryogenesis. Mice homozygous for the dlg mutation exhibit growth retardation in utero, have hypoplasia of the premaxilla and mandible, have a cleft secondary palate, and die perinatally. Consistent with this phenotype, Dlg-LacZ is expressed in mesenchymal and epithelial cells throughout palatal development. Our genetic and phenotypic analysis of dlg mutant mice suggests that protein-protein interactions involving the SH3, protein 4.1 binding, and/or GUK-like domains are essential to the normal function of murine Dlg within craniofacial and palatal morphogenesis.The product of the murine discs large (dlg) gene (25) belongs to the family of membrane-associated guanylate kinase (MAGUK) scaffolding proteins (3, 5). The first member of the MAGUK family was identified in Drosophila as recessive lethal mutations in dlg associated with neoplastic overgrowth of imaginal disc epithelial cells. In addition to loss of cellular growth control, epithelial cells in dlg mutants also demonstrated abnormalities in septate junction formation, cell polarity, and cell adhesion (40,45,46). Two recent reports have also presented evidence that mammalian Dlg is involved in regulation of cell growth (17, 41), raising the possibility that mammalian Dlg is involved in oncogenesis, consistent with the loss of cellular growth control in loss-of-function Drosophila dlg mutants.Members of the MAGUK family (the Dlg-like, p55-like, lin2-like, and ZO-1-like proteins) (5) have a protein domain structure in common that includes one to three PDZ (PSD-95/DLG/ZO-1) domains, a src homology 3 (SH3) domain, and a guanylate kinase (GUK)-like domain (Fig. 1A). These domains mediate interactions with a variety of transmembrane, ion channel, signaling, and cytoskeletal proteins, thereby localizing these protein complexes to specialized membrane sites, such as regions of cell-cell contact in epithelial cells, the plasma membrane of red blood cells, and synaptic junctions (5). The PDZ domains of human Dlg (hDlg) and the rat homologue, synapse-associated pr...

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Familial partial trisomy of the long arm of chromosome 3 (3q).

Cited by 31 publications

References 3 publications

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34

Craniofacial Dysmorphogenesis Including Cleft Palate in Mice with an Insertional Mutation in the discs large Gene

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