Literature DB >> 2678018

Heart disease associated with deletion of the short arm of chromosome 18.

W Pearl1.   

Abstract

Deletion of the short arm of chromosome 18 produces a highly variable phenotype. Mental retardation, short stature, and an abnormal facies are invariably present. About 9% of patients with this syndrome have cardiac pathology.

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Year:  1989        PMID： 2678018     DOI： 10.1007/BF02081684

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


  28 in total

1.  FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA.

Authors:  I A UCHIDA; K N MCRAE; M RAY
Journal:  Am J Hum Genet       Date:  1965-09       Impact factor: 11.025

2.  An 18p21q translocation in a patient with presumptive "monosomy G".

Authors:  M M Cohen; T I Putnam
Journal:  Am J Dis Child       Date:  1972-12

Review 3.  Population cytogenetics, assignment of gene loci in autosomes, karyotype-phenotype correlations. A progress report on human cytogenetics.

Authors:  E Passarge
Journal:  Humangenetik       Date:  1970

4.  Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18.

Authors:  J Leisti; S Leisti; J Perheentupa; E Savilahti; P Aula
Journal:  Arch Dis Child       Date:  1973-04       Impact factor: 3.791

5.  [18p-Syndrome. Deletion of the short arm of chromosome 18].

Authors:  P Jacobsen
Journal:  Ugeskr Laeger       Date:  1973-01-01

6.  [Deletion of the short arm of chromosome 18 and paternal mosaicism].

Authors:  C Laurent; M Michel; N Philippe; J A Pinçon
Journal:  Ann Genet       Date:  1970-03

7.  [A recent case of partial deletion of short arm of chromosome 18].

Authors:  J C Vaillaud; J Martin; N Ayraud
Journal:  Ann Genet       Date:  1970-06

8.  Objective measurement of interpupillary distance.

Authors:  H B Pryor
Journal:  Pediatrics       Date:  1969-12       Impact factor: 7.124

9.  Autoimmune thyroiditis in a case of 18p- syndrome.

Authors:  P D Gluckman
Journal:  Aust Paediatr J       Date:  1977-06

10.  The 18 p-syndrome. Report of four cases.

Authors:  J Faust; M Habedank; C Nieuwenhuijsen
Journal:  Eur J Pediatr       Date:  1976-08-16       Impact factor: 3.183
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  4 in total

Review 1.  Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Authors:  Beate Schmidt; Floris Udink ten Cate; Michael Weiss; Udo Koehler
Journal:  Eur J Pediatr       Date:  2012-07       Impact factor: 3.183

2.  18p monosomy syndrome.

Authors:  H A Kane; D Borgaonkar; M McDermott; S Septimus; H Movahhedian
Journal:  Pediatr Cardiol       Date:  1991-04       Impact factor: 1.655

3.  18p Deletion Syndrome: Case Report with Clinical Consideration and Management.

Authors:  Megha Goyal; Mayuri Jain; Sachin Singhal; Kirty Nandimath
Journal:  Contemp Clin Dent       Date:  2017 Oct-Dec

4.  Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports.

Authors:  Hong Qi; Jianjiang Zhu; Shaoqin Zhang; Lirong Cai; Xiaohui Wen; Wen Zeng; Guodong Tang; Yao Luo
Journal:  Medicine (Baltimore)       Date:  2019-04       Impact factor: 1.817
  4 in total

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