Recombinant chromosome 13 with a duplication of the short arm

Seabright, Marina; Gregson, N. M.; Aronson, M.M.; Greene, A.E.; Coriell, Lewis L.

doi:10.1159/000131341

Cited by 3 publications

(6 citation statements)

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“…The region 13q32 appears to contain genes involved in digital malformations [Rodriguez de Alba et al, 1999]. Absence of thumbs and/or big toes was reported several times in partial monosomy/trisomy of chromosome 13 [Wilroy et al, 1976;Seabright et al, 1979;MacKenzie et al, 1994;Brown et al, 1995;Chung et al, 2001]. Other digit alterations including postaxial deficiencies, as in the present case, were also reported in some patients [Brown et al, 1995].…”

Section: Discussionsupporting

confidence: 68%

“…qter deletion as described here. However, one of them presented hydranencephaly and penoscrotal transposition without oligodactyly [Gershoni-Baruch and Zekaria, 1996], another presented penoscrotal transposition and digital anomalies without hydrocephaly [Chung et al, 2001], and the third one presented hydrocephaly and oligodactyly without penoscrotal transposition [Seabright et al, 1979]. The present work points to an association of deletion 13q with brain, heart, digital and genital anomalies, suggesting the location of different developmental genes in this region.…”

Section: Discussionsupporting

confidence: 57%

“…He had hydrocephaly associated with penoscrotal transposition and oligodactyly, which had never before been reported to be associated in the same patient with this syndrome, although hydrocephalus with or without ambiguous genitalia has been previously reported [Seabright et al, 1979;Chung et al, 2001]. Penoscrotal transposition has been reported as isolated, in association with other malformations or as part of the caudal deficiency sequence [Anlar and Ayabakan, 1986;Lage et al, 1987;Turnock and Brereton, 1991;MacKenzie et al, 1994], as well as in association with a mosaic trisomy 8 karyotype and other chromosomal anomalies, including deletion of 13q [Schofield et al, 1992;Karna and Kapur, 1994;Schinzel, 2001].…”

Section: Discussionmentioning

confidence: 77%

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Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

Christofolini

Yoshimoto

Squire

et al. 2006

American J of Med Genetics Pt A

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We report on a patient with hydrocephaly, penoscrotal transposition, oligodactyly, and minor anomalies. Comprehensive cytogenetic studies involving both classical cytogenetic methods and mBAND analysis were used to show a stable dicentric rearranged chromosome 13 that result in a 46,XY,psu dic(13;13)(13pter --> 13q32::13q11 --> 13pter) de novo karyotype. This aberration probably arose as a consequence of unequal sister chromatid breakage repair events. This report is the first to describe all of the most severe features associated with partial monosomy in one patient. Moreover, the delineation of monosomy 13q32 --> qter in this patient facilitates identification of the developmental genes responsible for the clinical features within this region of chromosome 13.

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Section: Discussionsupporting

confidence: 68%

Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 77%

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Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

Christofolini

Yoshimoto

Squire

et al. 2006

American J of Med Genetics Pt A

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“…The patient described here presented severe features of the 13q‐syndrome. He had hydrocephaly associated with penoscrotal transposition and oligodactyly, which had never before been reported to be associated in the same patient with this syndrome, although hydrocephalus with or without ambiguous genitalia has been previously reported [Seabright et al, 1979; Chung et al, 2001]. Penoscrotal transposition has been reported as isolated, in association with other malformations or as part of the caudal deficiency sequence [Anlar and Ayabakan, 1986; Lage et al, 1987; Turnock and Brereton, 1991; MacKenzie et al, 1994], as well as in association with a mosaic trisomy 8 karyotype and other chromosomal anomalies, including deletion of 13q [Schofield et al, 1992; Karna and Kapur, 1994; Schinzel, 2001].…”

Section: Discussionmentioning

confidence: 96%

“…The region 13q32 appears to contain genes involved in digital malformations [Rodriguez de Alba et al, 1999]. Absence of thumbs and/or big toes was reported several times in partial monosomy/trisomy of chromosome 13 [Wilroy et al, 1976; Seabright et al, 1979; MacKenzie et al, 1994; Brown et al, 1995; Chung et al, 2001]. Other digit alterations including postaxial deficiencies, as in the present case, were also reported in some patients [Brown et al, 1995].…”

Section: Discussionmentioning

confidence: 99%

Compatibilizing effect of starch‐grafted‐poly(L‐lactide) on the poly(ε‐caprolactone)/starch composites

Chen

Zhang

Zhuang

et al. 2010

J of Applied Polymer Sci

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ABSTRACT:The poly(e-caprolactone) (PCL)/starch blends were prepared with a coextruder by using the starch grafted PLLA copolymer (St-g-PLLA) as compatibilizers. The thermal, mechanical, thermo-mechanical, and morphological characterizations were performed to show the better performance of these blends compared with the virgin PCL/starch blend without the compatibilizer. Interfacial adhesion between PCL matrix and starch dispersion phases dominated by the compatibilizing effects of the St-g-PLLA copolymers was significantly improved. Mechanical and other physical properties were correlated with the compatibilizing effect of the St-g-PLLA copolymer. With the addition of starch acted as rigid filler, the Young's modulus of the PCL/starch blends with or without compatibilizer all increased, and the strength and elongation were decreased compared with pure PCL. Whereas when St-g-PLLA added into the blend, starch and PCL, the properties of the blends were improved markedly. The 50/50 composite of PCL/ starch compatibilized by 10% St-g-PLLA gave a tensile strength of 16.6 MPa and Young's modulus of 996 MPa, respectively, vs. 8.0 MPa and 597 MPa, respectively, for the simple 50/50 blend of PCL/starch. At the same time, the storage modulus of compatibilized blends improved to 2940 MPa.

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Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

Brown¹,

Gersen²,

et al. 1993

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We report on 14 patients with partial deletions of chromosome 13q. These patients exhibit a wide spectrum of phenotypes. Deletions limited to proximal bands q13-q31 are associated with growth retardation but not with major malformations. We review the literature since 1975 and summarize 13q deletion cases which have a phenotype involving one or more major malformations and mental retardation. Analysis of the breakpoints of these cases, as well as those reported by us, supports the hypothesis that only deletions involving at least part of band q32 are associated with major malformations and digital abnormalities. Patients with more distal deletions have severe mental retardation but do not have major malformations or growth retardation. A group of patients in whom the breakpoint is stated to be within q32 has had an intermediate phenotype. This suggests that it may be possible to define subregions within q32 whose deletion is associated with particular developmental defects.

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Recombinant chromosome 13 with a duplication of the short arm

Cited by 3 publications

References 0 publications

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

Compatibilizing effect of starch‐grafted‐poly(L‐lactide) on the poly(ε‐caprolactone)/starch composites

Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

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