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Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array‐based comparative genomic hybridization in a patient with mental retardation and dysmorphic features
Author(s) -
Hwang Kwei Shuai,
Pearson Margaret A.,
Stankiewicz Pawel,
Len P. Alan,
Cooper M. Lance,
Wu Jessica,
Ou Zhishuo,
Cai WeiWen,
Patel Ankita,
Cheung Sau Wai
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30858
Subject(s) - chromosomal translocation , karyotype , biology , comparative genomic hybridization , subtelomere , molecular cytogenetics , cytogenetics , genetics , breakpoint , chromosome , fluorescence in situ hybridization , hypoplasia , anatomy , gene
Molecular cytogenetics allows the identification of cryptic chromosome rearrangements, which is clinically useful in mentally retarded and/or dysmorphic individuals with normal results from conventional cytogenetics analysis. We report on a 3‐year‐old girl with mental retardation, growth deficiency, speech delay, and dysmorphic features including hypertelorism, upslanting palpebral fissures, midfacial hypoplasia, and posteriorly rotated ears. The G‐banding analysis showed a 46,XX,t(3;8)(q26.2;p21.1)mat karyotype. However, her clinical features were suggestive of the 18q syndrome. Subtelomeric FISH analysis revealed a der(18) translocated material from chromosome 17. Array‐based comparative genomic hybridization (array‐CGH) with subtelomeric BAC and PAC clones confirmed the abnormality and refined the breakpoints to 18q22.3‐qter and 17p13.2‐pter (deletion of 8.5 Mb and duplication of 3.9 Mb, respectively). This case demonstrates the diagnostic utility of combining conventional cytogenetics with molecular chromosome analyses for the identification of subtle chromosome abnormalities. © 2005 Wiley‐Liss, Inc.