Literature DB >> 1887848

Crossed polydactyly type I in a mother and son: an autosomal dominant trait?

S Ishikiriyama1, H Sawada, H Nambu, N Niikawa.   

Abstract

In a Japanese family, a propositus and his mother had crossed polydactyly type I. A maternal grandaunt also had preaxial polydactyly of the feet. The findings that both of the mother and son had the identical type of polydactyly are consistent with an autosomal dominant inheritance with variable expressivity. Other explanations include X-linked recessive inheritance, polygenic inheritance, and a chance occurrence of the 2 different kinds of polydactyly.

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Year:  1991        PMID: 1887848     DOI: 10.1002/ajmg.1320400108

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.

Authors:  Baowen Cheng; Yongli Dong; Li He; Wenru Tang; Haijing Yu; Jing Lu; Lin Xu; Bingrong Zheng; Kaiyuan Li; Chunjie Xiao
Journal:  J Clin Lab Anal       Date:  2006       Impact factor: 2.352

2.  The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Authors:  U Radhakrishna; D Bornholdt; H S Scott; U C Patel; C Rossier; H Engel; A Bottani; D Chandal; J L Blouin; J V Solanki; K H Grzeschik; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

3.  Familial crossed polysyndactyly in four generations of an Indian family.

Authors:  Pooja Dewan; Nitin Agarwal; Preeti Dewan; Vineet Batta
Journal:  World J Pediatr       Date:  2010-02-01       Impact factor: 2.764

  3 in total

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