Literature DB >> 1741973

Deletion of 7q22 and ectrodactyly.

H Rivera1, J Sanchez-Corona, V R Burgos-Fuentes, M J Melendez-Ruiz.   

Abstract

We report the case of an infant with 3-limb ectrodactyly and a deletion of most of 7q22. This observation, along with 4 similar cases from the literature, suggests the presence of a locus affecting limb differentiation in 7q22 near to the proximal interface.

Entities:  

Mesh：

Year:  1991        PMID： 1741973

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  9 in total

1.  Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.

Authors:  Aswini Sivasankaran; Ambika Srikanth; Pooja S Kulshreshtha; Deenadayalu Anuradha; Jayarama S Kadandale; Chandra R Samuel
Journal:  Mol Syndromol       Date:  2016-02-03

2.  Bilateral split hand/foot malformation and inv(7)(p22q21.3).

Authors:  J M Cobben; J B Verheij; W H Eisma; P H Robinson; R P Zwierstra; B Leegte; S Castedo
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

3.  Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

Authors:  D Lacombe; F Serville; D Marchand; J Battin
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  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

6.  Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.

Authors:  F Gurrieri; M Genuardi; P Chiurazzi; G Gillessen-Kaesbach; G Neri
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

7.  Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

Authors:  J Ignatius; S Knuutila; S W Scherer; B Trask; J Kere
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

Review 8.  Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

Authors:  S W Scherer; P Poorkaj; T Allen; J Kim; D Geshuri; M Nunes; S Soder; K Stephens; R A Pagon; M A Patton
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

9.  Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.

Authors:  L Martínez-Jacobo; C Córdova-Fletes; R Ortiz-López; F Rivas; C Saucedo-Carrasco; A Rojas-Martínez
Journal:  Mol Syndromol       Date:  2013-09
  9 in total

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