Literature DB >> 2325093

Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.

M Y Yip1, J Williams, A Goddard, P Campbell, I Lambert, R W Smithells.   

Abstract

Partial duplications of 10p and 13q in association with partial deletions of other chromosome segments have been variously reported. We describe here a female child with multiple congenital abnormalities and combined partial duplications of 10p and 13q resulting from a 3:1 segregation of a maternal t(10;13)(p13;q22). In comparing the phenotypic features of the two chromosome imbalances, the expression of features typical of partial duplication 10p appeared more pronounced.

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Year:  1990        PMID: 2325093      PMCID: PMC1017002          DOI: 10.1136/jmg.27.3.188

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  New chromosomal dysmorphic syndromes. 2. Trisomy 10p.

Authors:  S Stengel-Rutkowski; J D Murken; R Frankenberger; M Riechert; H Spiess; A Rodewald; J Stene
Journal:  Eur J Pediatr       Date:  1977-10-12       Impact factor: 3.183

3.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

Review 4.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

5.  Clinical delineation of proximal and distal partial 13q trisomy.

Authors:  J F Rogers
Journal:  Clin Genet       Date:  1984-03       Impact factor: 4.438

6.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

  6 in total
  1 in total

1.  Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literature.

Authors:  Yuan Wei; Xuefeng Gao; Liying Yan; Fang Xu; Peining Li; Yangyu Zhao
Journal:  Case Rep Genet       Date:  2012-10-23
  1 in total

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