Literature DB >> 3605204

Duplication 3p21----3pter and cyclopia.

D N Kurtzman, D L Van Dyke, C A Rich, L Weiss.   

Abstract

We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).

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Year:  1987        PMID： 3605204     DOI： 10.1002/ajmg.1320270105

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


  5 in total

1.  Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q.

Authors:  G H Vance; C Nickerson; L Sarnat; A Zhang; O Henegariu; N Morichon-Delvallez; M G Butler; C G Palmer
Journal:  Am J Med Genet       Date:  1998-02-26

Review 2.  Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Authors:  N Morichon-Delvallez; A L Delezoide; M Vekemans
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

3.  A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.

Authors:  Douglas C Bittel; Nataliya Kibiryeva; Majed Dasouki; Joan H M Knoll; Merlin G Butler
Journal:  Am J Med Genet A       Date:  2006-03-15       Impact factor: 2.802

4.  Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report.

Authors:  Scott W Stuart; Casey H King; G Shashidar Pai
Journal:  MedGenMed       Date:  2007-12-18

5.  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
  5 in total

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