Literature DB >> 2810342

Duplication of distal 17q from a maternal translocation: an additional case with some unique features.

A Caine1, D M Knapton, R F Mueller, P J Congdon, D Haigh.   

Abstract

A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplication shows several unique features in our case.

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Year:  1989        PMID： 2810342      PMCID： PMC1015697          DOI： 10.1136/jmg.26.9.577

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


  4 in total

1.  Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.

Authors:  A Serotkin; J Stamberg; L Waber
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

2.  Partial duplication of distal 17q.

Authors:  J Bridge; W Sanger; G Mosher; B Buehler; C Hearty; A Olney; R Fordyce
Journal:  Am J Med Genet       Date:  1985-10

3.  Phenotypic variation in the del(12p) syndrome.

Authors:  J D Kivlin; R M Fineman; M S Williams
Journal:  Am J Med Genet       Date:  1985-12

4.  De novo distal trisomy 17q.

Authors:  E Orye; H van Bever
Journal:  Ann Genet       Date:  1985
  4 in total
  2 in total

1.  Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Authors:  H M Kingston; D H Ledbetter; P I Tomlin; K L Gaunt
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

2.  A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.

Authors:  Jariya Upadia; Joseph B Philips; Nathaniel H Robin; Edward J Lose; Fady M Mikhail
Journal:  Clin Case Rep       Date:  2018-02-14
  2 in total

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