Literature DB >> 8825934

Del(3) (p25.3) without phenotypic effect.

L A Knight1, M H Yong, M Tan, I S Ng.   

Abstract

A terminal deletion of chromosome 3 at p25.3 was observed during prenatal diagnosis. A similar deletion is also present in the phenotypically normal mother. The deletion was confirmed by FISH. The breakpoint is distal to the region responsible for the 3p- syndrome. A normal baby girl was born with no apparent phenotypic abnormalities.

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Year:  1995        PMID： 8825934      PMCID： PMC1051787          DOI： 10.1136/jmg.32.12.994

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


  3 in total

Review 1.  Terminal deletion of the short arm of chromosome 3.

Authors:  M Asai; Y Ito; T Iguchi; J Ito; N Okada; H Oishi
Journal:  Jpn J Hum Genet       Date:  1992-06

Review 2.  Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.

Authors:  H Nienhaus; U Mau; K D Zang
Journal:  Am J Med Genet       Date:  1992-11-15

3.  Molecular genetic analysis of the 3p- syndrome.

Authors:  M E Phipps; F Latif; A Prowse; S J Payne; J Dietz-Band; M Leversha; N A Affara; A T Moore; J Tolmie; A Schinzel
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150
  3 in total
  10 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Authors:  J C Barber; C A Joyce; M N Collinson; J C Nicholson; L R Willatt; H M Dyson; M S Bateman; A J Green; J R Yates; N R Dennis
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

3.  Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Authors:  Cristina Cuoco; Patrizia Ronchetto; Stefania Gimelli; Frédérique Béna; Maria Teresa Divizia; Margherita Lerone; Marisol Mirabelli-Badenier; Monica Mascaretti; Giorgio Gimelli
Journal:  Orphanet J Rare Dis       Date:  2011-04-01       Impact factor: 4.123

4.  Detailed mapping of a congenital heart disease gene in chromosome 3p25.

Authors:  E K Green; M D Priestley; J Waters; C Maliszewska; F Latif; E R Maher
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

Review 5.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

6.  Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Authors:  Thomas Fernandez; Thomas Morgan; Nicole Davis; Ami Klin; Ashley Morris; Anita Farhi; Richard P Lifton; Matthew W State
Journal:  Am J Hum Genet       Date:  2004-04-21       Impact factor: 11.025

7.  The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.

Authors:  Arthur L Beaudet
Journal:  Child Dev       Date:  2013-01-11

8.  Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

Authors:  Ignatia B Van den Veyver; Ankita Patel; Chad A Shaw; Amber N Pursley; Sung-Hae L Kang; Marcia J Simovich; Patricia A Ward; Sandra Darilek; Anthony Johnson; Sarah E Neill; Weimin Bi; Lisa D White; Christine M Eng; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Journal:  Prenat Diagn       Date:  2009-01       Impact factor: 3.050

9.  Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.

Authors:  Jacquelyn D Riley; Catherine M Stefaniuk; Francine Erenberg; Angelika L Erwin; Lauren Palange; Caroline Astbury
Journal:  Case Rep Genet       Date:  2019-07-25

10.  TAMM41 is required for heart valve differentiation via regulation of PINK-PARK2 dependent mitophagy.

Authors:  Rui Meng Yang; Jiong Tao; Ming Zhan; Hao Yuan; Hai Hong Wang; Sai Juan Chen; Zhu Chen; Hugues de Thé; Jun Zhou; Ying Guo; Jun Zhu
Journal:  Cell Death Differ       Date:  2019-03-01       Impact factor: 15.828
  10 in total

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