Literature DB >> 16053911

Follow-up of adult males with chromosome 18p deletion.

Thomy J L de Ravel1, Paul Thiry, Jean-Pierre Fryns.   

Abstract

The 18p- syndrome has been known for over 40 years, the first report being by de Grouchy et al. [Comptes Rendus Hebdomadaires Séances l'Acad Sci 256 (1963) 1028]. Mental retardation of varying severity is the most constant feature. Over 100 cases have been reported. The eldest patients have been 50 years [Hum Genet 63 (1983) 139; Clin Genet 2 (1971) 338]. Follow-up of two adult patients, then 22 and 42 years [Ann Génét 29 (1986) 107], now 42 and 62 years of age, is reported. Further case reports are required in order to better define the evolution of adult patients with the 18p- syndrome.

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Year:  2005        PMID: 16053911     DOI: 10.1016/j.ejmg.2005.01.024

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  10 in total

1.  Adults with Chromosome 18 Abnormalities.

Authors:  Bridgette Soileau; Minire Hasi; Courtney Sebold; Annice Hill; Louise O'Donnell; Daniel E Hale; Jannine D Cody
Journal:  J Genet Couns       Date:  2014-11-19       Impact factor: 2.537

2.  Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?

Authors:  Susan G McGrew; Brittany R Peters; Julie A Crittendon; Jeremy Veenstra-Vanderweele
Journal:  J Autism Dev Disord       Date:  2012-08

3.  The genotype and phenotype of chromosome 18p deletion syndrome: Case series.

Authors:  Qiujie Jin; Rong Qiang; Bo Cai; Xiaobin Wang; Na Cai; Shuai Zhen; Wen Zhai
Journal:  Medicine (Baltimore)       Date:  2021-05-07       Impact factor: 1.889

4.  Familial deletion 18p syndrome: case report.

Authors:  Bruno Maranda; Nicole Lemieux; Emmanuelle Lemyre
Journal:  BMC Med Genet       Date:  2006-07-14       Impact factor: 2.103

5.  Taxonomic review of the orders Mysida and Stygiomysida (crustacea, peracarida).

Authors:  Kenneth Meland; Jan Mees; Megan Porter; Karl J Wittmann
Journal:  PLoS One       Date:  2015-04-30       Impact factor: 3.240

6.  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

7.  A case of 18p deletion syndrome after blepharoplasty.

Authors:  Li-Juan Xu; Lv-Xian Wu; Qing Yuan; Zhi-Gang Lv; Xue-Yan Jiang
Journal:  Int Med Case Rep J       Date:  2017-01-12

8.  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

9.  18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review.

Authors:  Ji Young Choi; Ja Un Moon; Da Hye Yoon; Jisook Yim; Myungshin Kim; Min Ho Jung
Journal:  Children (Basel)       Date:  2022-07-01

Review 10.  Monosomy 18p.

Authors:  Catherine Turleau
Journal:  Orphanet J Rare Dis       Date:  2008-02-19       Impact factor: 4.123

  10 in total

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