A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique

Ram S. Verma, Svetlana M. Kleyman, Radha Giridharan, K. H. Ramesh

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)303-305
Number of pages3
JournalClinical Genetics
Volume49
Issue number6
StatePublished - Jun 1 1996
Externally publishedYes

Keywords

  • Chromosome 15
  • Deletion
  • FISH-technique
  • Telomere

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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