Literature DB >> 11903339

Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype.

J R Batania1, K Morris, E Ma, Y Huang, J McComb.   

Abstract

We report a familial deletion of (8q) detected in amniocytes of a fetus with a normal ultrasound and in the phenotypically normal mother, who has now had three pregnancy losses. Chromosome analysis of amniocytes and maternal peripheral blood cells showed an interstitial deletion of (8)(q24.13q24.22), which is distal to the region associated with Langer-Giedion syndrome (LGS) or trichorhinophalangeal (TRP) syndrome. This deletion was confirmed by fluorescence in situ hybridization with a c-myc cosmid clone and chromosome 8 painting library.

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Year:  2001        PMID: 11903339     DOI: 10.1034/j.1399-0004.2001.600509.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

1.  An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

Authors:  Paolo Guanciali-Franchi; Claudio Celentano; Melissa Alfonsi; Chiara Palka; Giulietta Di Pasqua; Barbara Matarrelli; Giandomenico Palka
Journal:  Mol Syndromol       Date:  2016-12-03

Review 2.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

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

Review 3.  Chromosome abnormalities without phenotypic consequences.

Authors:  Małgorzata Kowalczyk; Małgorzata Srebniak; Agnieszka Tomaszewska
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

  3 in total

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