Literature DB >> 20012787

Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome.

Babu Rao Vundinti1, Seema Korgaonkar, Kanjaksha Ghosh.   

Abstract

We report a case of familial small supernumerary marker chromosome (sSMC)in a child with translocation Down syndrome (DS)and mother. The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar. The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes. Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14. The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(:p11-q11:).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences.

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Year:  2009        PMID: 20012787     DOI: 10.1007/s12098-009-0243-6

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  11 in total

1.  Combined Down and Klinefelter syndrome.

Authors:  V Babu Rao; K Ghosh
Journal:  Indian Pediatr       Date:  2003-09       Impact factor: 1.411

2.  A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.

Authors:  I Lorda-Sanchez; M B Petersen; F Binkert; M Maechler; W Schmid; P A Adelsberger; S E Antonarakis; A Schinzel
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

3.  Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies.

Authors:  E S Sachs; J O Van Hemel; J C Den Hollander; M G Jahoda
Journal:  Prenat Diagn       Date:  1987-02       Impact factor: 3.050

Review 4.  FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.

Authors:  J A Crolla
Journal:  Am J Med Genet       Date:  1998-02-03

Review 5.  Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.

Authors:  Thomas Eggermann; Ulrike Gamerdinger; Kristin Bosse; Christiane Heidrich-Kaul; Ruth Raff; Esther Meyer; Ingeborg Heil; Herdit Schüler; Eckhard Korsch; Gesa Schwanitz
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802

6.  Study of Down syndrome in 238,942 consecutive births.

Authors:  C Stoll; Y Alembik; B Dott; M P Roth
Journal:  Ann Genet       Date:  1998

7.  FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.

Authors:  J A Crolla; F Long; H Rivera; N R Dennis
Journal:  Am J Med Genet       Date:  1998-02-03

Review 8.  Another case of prenatally diagnosed 48,XYY,+21.

Authors:  J Stevens; A Lin; E Gettig; K Filkins; E McPherson
Journal:  Am J Med Genet       Date:  1995-02-13

Review 9.  Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.

Authors:  O Miyoshi; S Hayashi; M Fujimoto; H Tomita; M Sohda; N Niikawa
Journal:  J Hum Genet       Date:  1998       Impact factor: 3.172

10.  Unusual chromosome aberrations in 3 children with Down syndrome.

Authors:  M Osztovics; S Tóth; O Wilhelm
Journal:  Acta Paediatr Acad Sci Hung       Date:  1982
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