Literature DB >> 6468449

Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.

J Otto, E Back, H O Fürste, M Abel, N Böhm, W Pringsheim.   

Abstract

A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.

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Year:  1984        PMID: 6468449     DOI: 10.1007/bf00442457

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  7 in total

1.  [Ring 15 chromosome: r(15). Identification by controlled denaturation].

Authors:  A Forabosco; B Dutrillaux; G Vassoler; J Lejeune
Journal:  Ann Genet       Date:  1972-12

2.  Ring chromosome 15: report of a case in an infertile man.

Authors:  N Moreau; M Teyssier
Journal:  Clin Genet       Date:  1982-04       Impact factor: 4.438

3.  Ring chromosome 15; 46,XX,r(15) (p11q26) in a girl.

Authors:  H Fujita; H Matsumoto
Journal:  Jinrui Idengaku Zasshi       Date:  1978-09

4.  Ring chromosome 15 syndrome.

Authors:  J P Fryns; J Jaeken; H Devlieger; P Debucquoy; E Eggermont; H Van den Berghe
Journal:  Acta Paediatr Belg       Date:  1981 Jan-Mar

5.  Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.

Authors:  C Goodpasture; S E Bloom
Journal:  Chromosoma       Date:  1975-11-20       Impact factor: 4.316

6.  [Ring chromosome 15 in a child (author's transl)].

Authors:  S Scheibenreiter; H Frisch
Journal:  Wien Klin Wochenschr       Date:  1978-01-06       Impact factor: 1.704

7.  Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15.

Authors:  M Schmid; I Henrichs; H Nestler; H Knörr-Gärtner; W M Teller; W Krone
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

  7 in total
  4 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.  Two patients with ring chromosome 15 syndrome.

Authors:  M G Butler; A B Fogo; D A Fuchs; F S Collins; V G Dev; J A Phillips
Journal:  Am J Med Genet       Date:  1988-01

3.  Small bowel malrotation in distal 15q duplication: evidence for a rare association.

Authors:  Brooke M McLaughlin; Robert B Hufnagel; Howard M Saal
Journal:  Clin Dysmorphol       Date:  2015-04       Impact factor: 0.816

Review 4.  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
  4 in total

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