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 Citations (Scopus)

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 1996
Externally publishedYes

Fingerprint

Hypertelorism
Chromosomes, Human, Pair 15
Microcephaly
Muscle Hypotonia
Telomerase
Fluorescence In Situ Hybridization
Cytogenetics
Intellectual Disability
Enzymes

Keywords

  • Chromosome 15
  • Deletion
  • FISH-technique
  • Telomere

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique. / Verma, Ram S.; Kleyman, Svetlana M.; Giridharan, Radha; Ramesh, K.h.

In: Clinical Genetics, Vol. 49, No. 6, 06.1996, p. 303-305.

Research output: Contribution to journalArticle

Verma, RS, Kleyman, SM, Giridharan, R & Ramesh, KH 1996, 'A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique', Clinical Genetics, vol. 49, no. 6, pp. 303-305.
Verma, Ram S. ; Kleyman, Svetlana M. ; Giridharan, Radha ; Ramesh, K.h. / A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique. In: Clinical Genetics. 1996 ; Vol. 49, No. 6. pp. 303-305.
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