Literature DB >> 9599646

Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31).

R A Pfeiffer1, A Rauch, R Ulmer, E Beinder, U Trautmann.   

Abstract

We report on a malformed stillborn with deletion 3p subsequent to direct paracentric insertion (intraarm shift) in the normal father which had been first mistaken for paracentric inversion. The corrected diagnosis was supported by FISH of mapped markers on metaphase chromosomes. In addition we looked for recombinants in sperm. This observation reminds similar cases that had been considered exceptions to the expected meiotic recombination of paracentric inversions and points to a cytogenetic pitfall. Published deletions and paracentric inversions in 3p are briefly quoted.

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Mesh:

Year:  1998        PMID: 9599646

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  4 in total

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Review 2.  Genetic factors in congenital diaphragmatic hernia.

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Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

3.  Roundabout receptors are critical for foregut separation from the body wall.

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4.  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 in total

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