Literature DB >> 20012807

Seckel syndrome with chromosomal 18 deletion.

Inusha Panigrahi1, Satvinder Kaur, Ketan Kulkarni, Reena Das, Ram Kumar Marwaha.   

Abstract

Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.

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Year:  2009        PMID： 20012807     DOI： 10.1007/s12098-009-0223-x

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

Authors:  A D Børglum; T Balslev; A Haagerup; N Birkebaek; H Binderup; T A Kruse; J M Hertz
Journal:  Eur J Hum Genet       Date:  2001-10       Impact factor: 4.246

2.  Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature.

Authors:  G Capovilla; M E Lorenzetti; A Montagnini; R Borgatti; P Piccinelli; L Giordano; P Accorsi; R Caudana
Journal:  J Child Neurol       Date:  2001-05       Impact factor: 1.987

3.  Clinical and genetic heterogeneity of Seckel syndrome.

Authors:  L Faivre; M Le Merrer; S Lyonnet; H Plauchu; N Dagoneau; A B Campos-Xavier; J Attia-Sobol; A Verloes; A Munnich; V Cormier-Daire
Journal:  Am J Med Genet       Date:  2002-11-01

4.  Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

Authors:  J Goodship; H Gill; J Carter; A Jackson; M Splitt; M Wright
Journal:  Am J Hum Genet       Date:  2000-07-11       Impact factor: 11.025

Review 5.  Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature.

Authors:  A Shanske; D G Caride; L Menasse-Palmer; A Bogdanow; R W Marion
Journal:  Am J Med Genet       Date:  1997-05-16

6.  A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Authors:  Mark O'Driscoll; Victor L Ruiz-Perez; C Geoffrey Woods; Penny A Jeggo; Judith A Goodship
Journal:  Nat Genet       Date:  2003-03-17       Impact factor: 38.330

7.  Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Authors:  Mehmet Okyay Kilinç; Vasiliki Ninidu Ninis; Sibel Aylin Ugur; Beyhan Tüysüz; Mehmet Seven; Sevim Balci; Judith Goodship; Aslihan Tolun
Journal:  Eur J Hum Genet       Date:  2003-11       Impact factor: 4.246

8.  Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Authors:  Anita Rauch; Christian T Thiel; Detlev Schindler; Ursula Wick; Yanick J Crow; Arif B Ekici; Anthonie J van Essen; Timm O Goecke; Lihadh Al-Gazali; Krystyna H Chrzanowska; Christiane Zweier; Han G Brunner; Kristin Becker; Cynthia J Curry; Bruno Dallapiccola; Koenraad Devriendt; Arnd Dörfler; Esther Kinning; André Megarbane; Peter Meinecke; Robert K Semple; Stephanie Spranger; Annick Toutain; Richard C Trembath; Egbert Voss; Louise Wilson; Raoul Hennekam; Francis de Zegher; Helmuth-Günther Dörr; André Reis
Journal:  Science       Date:  2008-01-03       Impact factor: 47.728

9.  Chromosomal instability at common fragile sites in Seckel syndrome.

Authors:  Anne M Casper; Sandra G Durkin; Martin F Arlt; Thomas W Glover
Journal:  Am J Hum Genet       Date:  2004-08-12       Impact factor: 11.025
  9 in total
  2 in total

Review 1.  Primordial dwarfism: overview of clinical and genetic aspects.

Authors:  Preeti Khetarpal; Satrupa Das; Inusha Panigrahi; Anjana Munshi
Journal:  Mol Genet Genomics       Date:  2015-09-01       Impact factor: 3.291

2.  Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.

Authors:  Osama Khojah; Saeed Alamoudi; Nouf Aldawsari; Mohammed Babgi; Ahmed Lary
Journal:  Childs Nerv Syst       Date:  2021-08-03       Impact factor: 1.475
  2 in total

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