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

Authors: Batanian, JR¹; Morris, K¹; Ma, E²; Huang, Y²; McComb, J³

Source: Clinical Genetics, Volume 60, Number 5, November 2001 , pp. 371-373(3)

Publisher: Blackwell Publishing

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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.

Keywords: chromosome 8; chromosome deletion; familial chromosome deletion

Document Type: Research article

DOI: 10.1034/j.1399-0004.2001.600509.x

Affiliations: 1: Pediatrics and 2: Cytogenetics Laboratory, Cardinal Glennon Children's Hospital, St Louis, MO, USA; 3: Applied Genetics, Austin, TX, USA

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