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

Authors


Corresponding author: Jacqueline R. Batanian, Ph.D., Department of Pediatrics, Cardinal Glennon Children's Hospital, 1465 South Grand Blvd, St Louis, MO 63104, USA. Tel.: +1 314 5775393; fax: +1 314 2684035; e-mail: batanijr@slu.edu

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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