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Joerg Mattes - One of the best experts on this subject based on the ideXlab platform.

  • paternal uniparental isodisomy for Chromosome 14 with mosaicism for a supernumerary marker Chromosome 14
    American Journal of Medical Genetics Part A, 2007
    Co-Authors: Thomas Liehr, Joerg Mattes, Bruce Whitehead, Ian Wilkinson, John Bear, Kerry Fagan, Paul Craven, Bruce Bennetts
    Abstract:

    Uniparental disomy (UPD) describes the inheritance of two homologous Chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting, rather than with mutations, include Beckwith-Wiedemann syndrome (paternal UPD11p), Angelman syndrome (paternal UPD15), Prader-Willi syndrome (maternal UPD15), and transient neonatal diabetes (paternal UPD6). Here we report on the first case of paternal uniparental isodisomy of Chromosome 14 with a mosaicism for a supernumerary marker Chromosome 14. The patient demonstrated a small thorax with a 'coat hanger' shape of the ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isoChromosome, a supernumerary marker Chromosome can be an important clue to the presence of UPD14.

  • Clinical Report Paternal Uniparental Isodisomy for Chromosome 14 With Mosaicism for a Supernumerary Marker Chromosome 14
    2007
    Co-Authors: Joerg Mattes, Thomas Liehr, Bruce Whitehead, Ian Wilkinson, John Bear, Kerry Fagan, Paul Craven, Bruce Bennetts, Matthew S. Edwards
    Abstract:

    Uniparental disomy (UPD) describes the inheritance of two homologous Chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting, rather than with mutations, include Beckwith– Wiedemann syndrome (paternal UPD11p), Angelman syndrome (paternal UPD15), Prader–Willi syndrome (maternal UPD15), and transient neonatal diabetes (paternal UPD6). Here we report on the first case of paternal uniparental isodisomy of Chromosome 14 with a mosaicism for a supernumerary marker Chromosome 14. The patient demonstrated a small thorax with a ‘coat hanger’ shape of the ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isoChromosome, a supernumerary marker Chromosome can be an important clue to the presence of UPD14. 2007 Wiley-Liss, Inc.

Shinji Saitoh - One of the best experts on this subject based on the ideXlab platform.

  • west syndrome associated with mosaic duplication of foxg1 in a patient with maternal uniparental disomy of Chromosome 14
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Jun Tohyama, Toshiyuki Yamamoto, Kana Hosoki, Keisuke Nagasaki, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi, Shinji Saitoh
    Abstract:

    FOXG1 on Chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of Chromosome 14 and West syndrome who carried a small supernumerary marker Chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization analysis confirmed that the marker Chromosome was derived from Chromosome 14. A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on Chromosome 14 confirmed that the patient had maternal uniparental disomy 14 as well as a mosaic small marker Chromosome of paternal origin containing the proximal long arm of Chromosome 14. Microarray-based comparative genomic hybridization analysis conclusively defined the region of the gain of genomic copy numbers at 14q11.2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms. © 2011 Wiley-Liss, Inc.

  • West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of Chromosome 14.
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Jun Tohyama, Toshiyuki Yamamoto, Kana Hosoki, Keisuke Nagasaki, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi, Shinji Saitoh
    Abstract:

    FOXG1 on Chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of Chromosome 14 and West syndrome who carried a small supernumerary marker Chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization analysis confirmed that the marker Chromosome was derived from Chromosome 14. A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on Chromosome 14 confirmed that the patient had maternal uniparental disomy 14 as well as a mosaic small marker Chromosome of paternal origin containing the proximal long arm of Chromosome 14. Microarray-based comparative genomic hybridization analysis conclusively defined the region of the gain of genomic copy numbers at 14q11.2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms.

Lisa G. Shaffer - One of the best experts on this subject based on the ideXlab platform.

  • A case of segmental paternal isodisomy of Chromosome 14
    Human genetics, 2002
    Co-Authors: Karen J. Coveler, Sam P. Yang, V. Reid Sutton, Jay M. Milstein, Cami Knox-du Bois, Linda Beischel, John P. Johnson, Lisa G. Shaffer
    Abstract:

    Uniparental disomy of Chromosome 14 (UPD 14) results in one of two distinct abnormal phenotypes, depending upon the parent of origin. This discordance may result from the reciprocal over-expression and/or under-expression of one or more imprinted genes. We report a case of segmental paternal isodisomy for Chromosome 14 with features similar to those reported in other paternal disomy 14 cases. Microsatellite marker analysis revealed an apparent somatic recombination event in 14q12 leading to proximal biparental inheritance, but segmental paternal uniparental isodisomy distal to this site. Analysis of monochromosomal somatic cell hybrids containing either the paternally inherited or the maternally inherited Chromosome 14 revealed no deletion of the maternally inherited Chromosome 14 and demonstrated the presence of paternal sequences from D14S121 to the telomere on both Chromosomes 14. Thus, the patient has paternal isodisomy for 14q12-14qter. Because the patient shows most of the features associated with paternal disomy 14, this supports the presence of the imprinted domain(s) distal to 14q12 and suggests that the proximal region of Chromosome 14 does not contain imprinted genes that contribute significantly to the paternal UPD 14 phenotype.

  • search for imprinted regions on Chromosome 14 comparison of maternal and paternal upd cases with cases of Chromosome 14 deletion
    American Journal of Medical Genetics, 2000
    Co-Authors: Reid V Sutton, Lisa G. Shaffer
    Abstract:

    Over the past few years, regions of genomic imprinting have been identified on a small number of Chromosomes through a search for the etiology of various disorders. Distinct phenotypes have been associated with both maternal and paternal uniparental disomy (UPD) for Chromosome 14. This observation indicates that there are imprinted genes present on Chromosome 14, although none have been identified to date. In order to focus the search for imprinted genes on Chromosome 14, we analyzed cases of maternal and paternal UPD 14 and compared them with cases of Chromosome 14 deletions. Cases of paternal UPD were compared with maternal deletions and maternal UPD compared with paternal deletions. The paternal UPD anomalies seen in maternal deletion cases allowed us to associate the following features and chromosomal regions: Hirsute forehead: del(14)(q12q13.3) and del(14)(q32); blepharophimosis: del(14)(q32); small thorax: del(14)(q11.2q13); and joint contractures: del(14)(q11.2q13) and del(14)(q31). Comparison of maternal UPD and paternal deletion cases revealed fleshy nasal tip to be most often associated with del(14)(q32), scoliosis with del(14) (q23q24.2), and del(14)(q32.11qter) and small size at birth to be associated with del(14)(q11q13) and del(14)(q32). Our study, in conjunction with a prior study of UPD 14 and partial trisomy 14 cases, and what is known of imprinting in regions of mouse Chromosomes homologous to human Chromosome 14, leads us to conclude that 14q23-q32 is likely an area where imprinted genes may reside. Am. J. Med. Genet. 93:381–387, 2000. © 2000 Wiley-Liss, Inc.

  • Search for imprinted regions on Chromosome 14: comparison of maternal and paternal UPD cases with cases of Chromosome 14 deletion.
    American journal of medical genetics, 2000
    Co-Authors: V. Reid Sutton, Lisa G. Shaffer
    Abstract:

    Over the past few years, regions of genomic imprinting have been identified on a small number of Chromosomes through a search for the etiology of various disorders. Distinct phenotypes have been associated with both maternal and paternal uniparental disomy (UPD) for Chromosome 14. This observation indicates that there are imprinted genes present on Chromosome 14, although none have been identified to date. In order to focus the search for imprinted genes on Chromosome 14, we analyzed cases of maternal and paternal UPD 14 and compared them with cases of Chromosome 14 deletions. Cases of paternal UPD were compared with maternal deletions and maternal UPD compared with paternal deletions. The paternal UPD anomalies seen in maternal deletion cases allowed us to associate the following features and chromosomal regions: Hirsute forehead: del(14)(q12q13. 3) and del(14)(q32); blepharophimosis: del(14)(q32); small thorax: del(14)(q11.2q13); and joint contractures: del(14)(q11.2q13) and del(14)(q31). Comparison of maternal UPD and paternal deletion cases revealed fleshy nasal tip to be most often associated with del(14)(q32), scoliosis with del(14) (q23q24.2), and del(14)(q32. 11qter) and small size at birth to be associated with del(14)(q11q13) and del(14)(q32). Our study, in conjunction with a prior study of UPD 14 and partial trisomy 14 cases, and what is known of imprinting in regions of mouse Chromosomes homologous to human Chromosome 14, leads us to conclude that 14q23-q32 is likely an area where imprinted genes may reside.

Jun Tohyama - One of the best experts on this subject based on the ideXlab platform.

  • west syndrome associated with mosaic duplication of foxg1 in a patient with maternal uniparental disomy of Chromosome 14
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Jun Tohyama, Toshiyuki Yamamoto, Kana Hosoki, Keisuke Nagasaki, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi, Shinji Saitoh
    Abstract:

    FOXG1 on Chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of Chromosome 14 and West syndrome who carried a small supernumerary marker Chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization analysis confirmed that the marker Chromosome was derived from Chromosome 14. A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on Chromosome 14 confirmed that the patient had maternal uniparental disomy 14 as well as a mosaic small marker Chromosome of paternal origin containing the proximal long arm of Chromosome 14. Microarray-based comparative genomic hybridization analysis conclusively defined the region of the gain of genomic copy numbers at 14q11.2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms. © 2011 Wiley-Liss, Inc.

  • West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of Chromosome 14.
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Jun Tohyama, Toshiyuki Yamamoto, Kana Hosoki, Keisuke Nagasaki, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi, Shinji Saitoh
    Abstract:

    FOXG1 on Chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of Chromosome 14 and West syndrome who carried a small supernumerary marker Chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization analysis confirmed that the marker Chromosome was derived from Chromosome 14. A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on Chromosome 14 confirmed that the patient had maternal uniparental disomy 14 as well as a mosaic small marker Chromosome of paternal origin containing the proximal long arm of Chromosome 14. Microarray-based comparative genomic hybridization analysis conclusively defined the region of the gain of genomic copy numbers at 14q11.2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms.

Bruce Bennetts - One of the best experts on this subject based on the ideXlab platform.

  • paternal uniparental isodisomy for Chromosome 14 with mosaicism for a supernumerary marker Chromosome 14
    American Journal of Medical Genetics Part A, 2007
    Co-Authors: Thomas Liehr, Joerg Mattes, Bruce Whitehead, Ian Wilkinson, John Bear, Kerry Fagan, Paul Craven, Bruce Bennetts
    Abstract:

    Uniparental disomy (UPD) describes the inheritance of two homologous Chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting, rather than with mutations, include Beckwith-Wiedemann syndrome (paternal UPD11p), Angelman syndrome (paternal UPD15), Prader-Willi syndrome (maternal UPD15), and transient neonatal diabetes (paternal UPD6). Here we report on the first case of paternal uniparental isodisomy of Chromosome 14 with a mosaicism for a supernumerary marker Chromosome 14. The patient demonstrated a small thorax with a 'coat hanger' shape of the ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isoChromosome, a supernumerary marker Chromosome can be an important clue to the presence of UPD14.

  • Clinical Report Paternal Uniparental Isodisomy for Chromosome 14 With Mosaicism for a Supernumerary Marker Chromosome 14
    2007
    Co-Authors: Joerg Mattes, Thomas Liehr, Bruce Whitehead, Ian Wilkinson, John Bear, Kerry Fagan, Paul Craven, Bruce Bennetts, Matthew S. Edwards
    Abstract:

    Uniparental disomy (UPD) describes the inheritance of two homologous Chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting, rather than with mutations, include Beckwith– Wiedemann syndrome (paternal UPD11p), Angelman syndrome (paternal UPD15), Prader–Willi syndrome (maternal UPD15), and transient neonatal diabetes (paternal UPD6). Here we report on the first case of paternal uniparental isodisomy of Chromosome 14 with a mosaicism for a supernumerary marker Chromosome 14. The patient demonstrated a small thorax with a ‘coat hanger’ shape of the ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isoChromosome, a supernumerary marker Chromosome can be an important clue to the presence of UPD14. 2007 Wiley-Liss, Inc.