Literature DB >> 2746621

Ring chromosome 15 in a patient with features of Fryns' syndrome.

G de Jong1, R A Rossouw, A E Retief.   

Abstract

A stillborn male infant with a ring chromosome 15 and some features compatible with Fryns' syndrome is presented. Neither diagnosis is common and the overlap may be of significance.

Entities:  

Mesh：

Year:  1989        PMID： 2746621      PMCID： PMC1015654          DOI： 10.1136/jmg.26.7.469

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24).

Authors:  U Kristoffersson; S Heim; N Mandahl; L Sundkvist; J Szelest; I Hägerstrand
Journal:  Clin Genet       Date:  1987-09       Impact factor: 4.438

2.  Ring chromosome 15 syndrome.

Authors:  J P Fryns; J Timmermans; F D Hondt; B François; L Emmery; H van den Berghe
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132

3.  Severe growth failure associated with atrophic intestinal mucosa and ring chromosome 15.

Authors:  G Kosztolányi; M Pap
Journal:  Acta Paediatr Scand       Date:  1986-03
  3 in total
  8 in total

1.  Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.

Authors:  Molka Kammoun; Wafa Slimani; Hanene Hannachi; Mohamed Bibi; Ali Saad; Soumaya Mougou-Zerelli
Journal:  J Pediatr Genet       Date:  2017-04-26

Review 2.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

3.  Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Authors:  M Klaassens; M van Dooren; H J Eussen; H Douben; A T den Dekker; C Lee; P K Donahoe; R J Galjaard; N Goemaere; R R de Krijger; C Wouters; J Wauters; B A Oostra; D Tibboel; A de Klein
Journal:  Am J Hum Genet       Date:  2005-03-04       Impact factor: 11.025

4.  Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.

Authors:  M Nuutinen; K Kouvalainen; M Knip
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

5.  Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.

Authors:  Shashikant Kulkarni; Prabakaran Nagarajan; Jonathan Wall; Diana J Donovan; Robert L Donell; Azra H Ligon; Sundaresan Venkatachalam; Bradley J Quade
Journal:  Am J Med Genet A       Date:  2008-05-01       Impact factor: 2.802

6.  Two fetuses with Fryns syndrome without diaphragmatic defects.

Authors:  K K Wilgenbus; R Engers; G Crombach; F Majewski
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

Review 7.  Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.

Authors:  César Paz-Y-Miño; Jaime Guevara-Aguirre; Ariane Paz-Y-Miño; Francesca Velarde; Isaac Armendáriz-Castillo; Verónica Yumiceba; Jesús María Hernández; Juan Luis García; Paola E Leone
Journal:  J Med Case Rep       Date:  2018-11-16

8.  Fryns syndrome: a case associated with karyotype XO.

Authors:  Nader M H Dawani; Abdul Raoof Al Madhoob; Fuad Abdulla Ali; Fatima Shabib
Journal:  Ann Saudi Med       Date:  2004 Mar-Apr       Impact factor: 1.526
  8 in total

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