Literature DB >> 7188997

[Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl)].

E Kessel, R A Pfeiffer, C Baisch.   

Abstract

Postaxial polydactyly represents an important manifestation of distal (partial) trisomy 13. We report on 2 patients with different chromosomal aberrations who share also mental deficiency, abnormal EEG, moderate dilatation of the 3rd ventricle and craniofacial dysmorphy.

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Year:  1980        PMID: 7188997     DOI: 10.1055/s-2008-1033863

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN: 0300-8630            Impact factor:   1.349


  2 in total

1.  Heptacarpo-octatarso-dactyly combined with multiple malformation.

Authors:  U Töllner; J Horst; E Manzke; M Schmid; H Nestler-Wocher; C Weckler
Journal:  Eur J Pediatr       Date:  1981-05       Impact factor: 3.183

Review 2.  Review of literature: genes related to postaxial polydactyly.

Authors:  Prashant Kumar Verma; Ashraf A El-Harouni
Journal:  Front Pediatr       Date:  2015-02-11       Impact factor: 3.418

  2 in total

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