Literature DB >> 7205432

Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+).

B Say, N J Carpenter, G Giacoia, S Jegathesan.   

Abstract

We describe a patient with agenesis of the left lung who also had a chromosome abnormality, probably representing a duplication of the distal part of the upper arm of chromosome 2. In addition to this finding, the existence of familial cases of lung agenesis indicate that further studies are required for better understanding of the genetic aspects of this condition.

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Mesh：

Year:  1980        PMID： 7205432      PMCID： PMC1885927          DOI： 10.1136/jmg.17.6.477

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


  3 in total

1.  The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage "scimitar syndrome".

Authors:  C A NEILL; C FERENCZ; D C SABISTON; H SHELDON
Journal:  Bull Johns Hopkins Hosp       Date:  1960-07

2.  Association of asymmetric crying facies, malformation of the ear and pulmonary agenesis.

Authors:  H Dorchy; D Baran; J Richard
Journal:  Acta Paediatr Belg       Date:  1976

Review 3.  Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p),dup(2q),dup(3p),dup(3q).

Authors:  U Francke
Journal:  Birth Defects Orig Artic Ser       Date:  1978
  3 in total
  9 in total

Review 1.  Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

Authors:  A Mégarbané; N Souraty; M Prieur; D Theophile; P Chédid; J Augé; M Vekemans
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Germline duplication of chromosome 2p and neuroblastoma.

Authors:  J S Patel; J Pearson; L Willatt; T Andrews; R Beach; A Green
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

3.  Unilateral right pulmonary agenesis in adulthood.

Authors:  Hediye Pinar Gunbey; Emre Gunbey; Asli Tanrivermis Sayit; Taner Bulut
Journal:  J Clin Diagn Res       Date:  2014-06-20

Review 4.  Neuroblastoma tumour genetics: clinical and biological aspects.

Authors:  N Bown
Journal:  J Clin Pathol       Date:  2001-12       Impact factor: 3.411

5.  Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies.

Authors:  Sudheer R Gorla; Josaura Fernandez-Sanchez; Ashish Garg; Sethuraman Swaminathan
Journal:  BMJ Case Rep       Date:  2018-05-12

6.  Unilateral agenesis of the lung: a rare entity.

Authors:  Urvinderpal Singh; Daksh Jhim; Sunil Kumar; Vidhu Mittal; Navdeep Singh; Hitesh Gour; Muralidharan Ramaraj
Journal:  Am J Case Rep       Date:  2015-02-08

7.  Pulmonary agenesis and respiratory failure in childhood.

Authors:  Paula Vanessa Valverde Dinamarco; Cesar Cilento Ponce
Journal:  Autops Case Rep       Date:  2015-03-30

Review 8.  Chromosome Imbalances in Neuroblastoma-Recent Molecular Insight into Chromosome 1p-deletion, 2p-gain, and 11q-deletion Identifies New Friends and Foes for the Future.

Authors:  Jikui Guan; Bengt Hallberg; Ruth H Palmer
Journal:  Cancers (Basel)       Date:  2021-11-24       Impact factor: 6.639

9.  Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress.

Authors:  Devki Nandan; Girish Chandra Bhatt; Vivek Dewan; Imkongkumzuk Pongener
Journal:  J Clin Imaging Sci       Date:  2012-12-27
  9 in total

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