Literature DB >> 8287191

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

D L Viljoen1, R Smart.   

Abstract

The split-hand/split-foot anomaly is a component of several disorders which may occur sporadically or be transmitted as autosomal dominant or autosomal recessive traits. We describe a severely mentally handicapped patient with ectrodactyly of both feet in association with extreme microphthalmia, central cleft-lip and palate and mental retardation. She has an apparent de novo 46,XX,t(6;13) (q21;q12) unbalanced translocation. Either of these breakpoints may be the locus for the ectrodactyly-ectodermal dysplasia-facial cleft (EEC) syndrome.

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Year:  1993        PMID: 8287191

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  7 in total

1.  Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Authors:  V S Vervoort; D Viljoen; R Smart; G Suthers; B R DuPont; A Abbott; C E Schwartz
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

2.  Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.

Authors:  S E Palmer; S W Scherer; M Kukolich; E M Wijsman; L C Tsui; K Stephens; J P Evans
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Authors:  Hana Abouzeid; Gaëlle Boisset; Tatiana Favez; Mohamed Youssef; Iman Marzouk; Nihal Shakankiry; Nader Bayoumi; Patrick Descombes; Céline Agosti; Francis L Munier; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2010-12-30       Impact factor: 11.025

4.  Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.

Authors:  Cindy Hudson; Corbin Schwanke; John P Johnson; Abdallah F Elias; Sandy Phillips; Tammy Schwalbe; Mary Tunby; Dongbin Xu
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

5.  A de novo interstitial 6q deletion in a boy with a split hand malformation.

Authors:  Jorge Duran-Gonzalez; Melva Gutierrez-Angulo; Diana Garcia-Cruz; Maria de la Luz Ayala; Miguel Padilla; Ingrid P Davalos
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

6.  Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.

Authors:  Megan L Donahue; Luis O Rohena
Journal:  Clin Case Rep       Date:  2017-04-26

7.  Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

Authors:  Ravinesh A Kumar; David B Everman; Chad T Morgan; Anne Slavotinek; Charles E Schwartz; Elizabeth M Simpson
Journal:  BMC Med Genet       Date:  2007-07-26       Impact factor: 2.103

  7 in total

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