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Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype
Author(s) -
Batanian JR,
Morris K,
Ma E,
Huang Y,
McComb J
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600509.x
Subject(s) - cosmid , fluorescence in situ hybridization , phenotype , microbiology and biotechnology , clone (java method) , biology , genetics , chromosome , in situ hybridization , gene , gene expression
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.