Literature DB >> 6496569

Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p deletion syndrome.

G Neri, J F Reynolds, J Westphal, J Hinz, A Daniel.   

Abstract

We report on a patient with a de novo interstitial deletion of the proximal portion of the short arm of chromosome 3 (p12----14.2). The deleted portion excludes the constitutive fragile site assigned to band 3p14. The phenotype of the patient, together with that of three previously reported cases, seems to be sufficiently characteristic to allow the delineation of a proximal 3p deletion syndrome.

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Year:  1984        PMID： 6496569     DOI： 10.1002/ajmg.1320190119

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2).

Authors:  J M Hertz; W Coerdt; N Hahnemann; M Schwartz
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

Review 2.  Interstitial Chromosome 3p13p14 Deletions: An Update and Review.

Authors:  Catherine A Hajek; Jianling Ji; Sulagna C Saitta
Journal:  Mol Syndromol       Date:  2018-04-07

3.  Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Authors:  Erwin Petek; Christian Windpassinger; Burkhard Simma; Thomas Mueller; Klaus Wagner; Peter M Kroisel
Journal:  J Hum Genet       Date:  2003-04-24       Impact factor: 3.172

4.  A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.

Authors:  Giulia Parmeggiani; Barbara Buldrini; Sergio Fini; Alessandra Ferlini; Stefania Bigoni
Journal:  Mol Syndromol       Date:  2018-05-30

5.  A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features.

Authors:  Ali Y Mersal; Mahaboob K Basha; Zaina S Brinji; Ghazal Avand
Journal:  J Clin Neonatol       Date:  2013-01
  5 in total

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