Literature DB >> 6609672

Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation.

R A Pfeiffer.   

Abstract

Report on a 2-year-old, severely retarded girl with partial monosomy of 7q who exhibited not only features possibly due to the chromosomal aberration such as intrauterine dystrophy, microcephaly, odd facies, cleft palate, CHD, but also typical splithand/splitfoot malformation.

Entities:  

Mesh：

Year:  1984        PMID： 6609672

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  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.  Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.

Authors:  K Naritomi; N Hyakuna; Y Suzuki; T Orii; K Hirayama
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

Review 3.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

4.  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

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.  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 7.  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

8.  A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.

Authors:  K Fagan; A Gill; R Henry; I Wilkinson; B Carey
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

9.  Increased de novo copy number variants in the offspring of older males.

Authors:  T Flatscher-Bader; C J Foldi; S Chong; E Whitelaw; R J Moser; T H J Burne; D W Eyles; J J McGrath
Journal:  Transl Psychiatry       Date:  2011-08-30       Impact factor: 6.222
  9 in total

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