Literature DB >> 17998600

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

Jorge Duran-Gonzalez1, Melva Gutierrez-Angulo, Diana Garcia-Cruz, Maria de la Luz Ayala, Miguel Padilla, Ingrid P Davalos.   

Abstract

We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or indirectly to limb development.

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Year:  2007        PMID： 17998600     DOI： 10.1007/BF03195240

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  10 in total

Review 1.  New insights into the phenotypes of 6q deletions.

Authors:  R J Hopkin; E Schorry; M Bofinger; A Milatovich; H J Stern; C Jayne; H M Saal
Journal:  Am J Med Genet       Date:  1997-06-27

2.  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

3.  Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly.

Authors:  L Correa-Cerro; D Garcíaz-Cruz; L Díaz-Castaños; L E Figuera; J Sanchez-Corona
Journal:  Ann Genet       Date:  1996

Review 4.  Pathogenesis of split-hand/split-foot malformation.

Authors:  Pascal H G Duijf; Hans van Bokhoven; Han G Brunner
Journal:  Hum Mol Genet       Date:  2003-04-01       Impact factor: 6.150

5.  Interstitial deletion of 6q21-q23 associated with split hand.

Authors:  M Tsukahara; J Yoneda; R Azuma; K Nakashima; N Kito; K Ouchi; Y Kanehara
Journal:  Am J Med Genet       Date:  1997-03-31

6.  Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

Authors:  O D Klein; P D Cotter; M W Moore; A Zanko; M Gilats; C J Epstein; F Conte; K A Rauen
Journal:  Clin Genet       Date:  2007-03       Impact factor: 4.438

7.  Deletion of the long arm of chromosome 6: two new patients and literature review.

Authors:  L J Evers; C T Schrander-Stumpel; J J Engelen; T M Hoorntje; C F Pulles-Heintzberger; J J Schrander; J C Albrechts; J Peters; J P Fryns
Journal:  Clin Genet       Date:  1996-09       Impact factor: 4.438

Review 8.  Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature.

Authors:  A Pandya; N Braverman; R E Pyeritz; K L Ying; A D Kline; R E Falk
Journal:  Am J Med Genet       Date:  1995-10-23

9.  Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

Authors:  F Gurrieri; M Cammarata; R M Avarello; M Genuardi; M G Pomponi; G Neri; L Giuffrè
Journal:  Am J Med Genet       Date:  1995-01-30

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

Authors:  D L Viljoen; R Smart
Journal:  Clin Dysmorphol       Date:  1993-07       Impact factor: 0.816
  10 in total
  3 in total

1.  Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Authors:  Jill A Rosenfeld; Dina Amrom; Eva Andermann; Frederick Andermann; Martin Veilleux; Cynthia Curry; Jamie Fisher; Stephen Deputy; Arthur S Aylsworth; Cynthia M Powell; Kandamurugu Manickam; Bryce Heese; Melissa Maisenbacher; Cathy Stevens; Jay W Ellison; Sheila Upton; John Moeschler; Wilfredo Torres-Martinez; Abby Stevens; Robert Marion; Elaine Maria Pereira; Melanie Babcock; Bernice Morrow; Trilochan Sahoo; Allen N Lamb; Blake C Ballif; Alex R Paciorkowski; Lisa G Shaffer
Journal:  Neurogenetics       Date:  2012-01-05       Impact factor: 2.660

2.  Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Authors:  Laïla El Khattabi; Fabien Guimiot; Eva Pipiras; Joris Andrieux; Clarisse Baumann; Sonia Bouquillon; Anne-Lise Delezoide; Bruno Delobel; Florence Demurger; Hélène Dessuant; Séverine Drunat; Christelle Dubourg; Céline Dupont; Laurence Faivre; Muriel Holder-Espinasse; Sylvie Jaillard; Hubert Journel; Stanislas Lyonnet; Valérie Malan; Alice Masurel; Nathalie Marle; Chantal Missirian; Alexandre Moerman; Anne Moncla; Sylvie Odent; Orazio Palumbo; Pietro Palumbo; Aimé Ravel; Serge Romana; Anne-Claude Tabet; Mylène Valduga; Marie Vermelle; Massimo Carella; Jean-Michel Dupont; Alain Verloes; Brigitte Benzacken; Andrée Delahaye
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

3.  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
  3 in total

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