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A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH‐technique
Author(s) -
Verma Ram S.,
Kleyman Svetlana M.,
Giridharan Radha,
Ramesh K. H.
Publication year - 1996
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 - 10.1111/j.1399-0004.1996.tb03793.x
Subject(s) - microcephaly , hypotonia , biology , genetics , fish <actinopterygii> , chromosome , hypertelorism , fluorescence in situ hybridization , microbiology and biotechnology , gene , fishery
We report a new chromosomal finding in a 20‐month‐old girl. The minor clinical features included: moderate mental retardation, microcephaly, mild hypotonia and hypertelorism. Initially, what appeared to be a terminal deletion of the long arm of one chromosome 15 [15q26 → qter] was determined to be an interstitial deletion involving band 15q25 as revealed by FISH‐technique, showing the presence of intact telomeric hybridization signals. The cytogenetic diagnosis was thus modified to 46,XX, del (15) (pter → q24::q26 → qter). Nevertheless, the function of the enzyme telomerase should not be ignored, as healing could occur following such terminal deletions. Consequently, it will remain a difficult task to distinguish terminal deletions from those that are interstitial.