Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

Mariluce Riegel, Eva Morava, Marta Czakó, Gyórgy Kosztolányi, Albert Schinzel

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

We report on an 18-month-old boy with a 2q33.3 deletion. The clinical findings observed in the propositus included minor anomalies of face and distal limbs, intrauterine and postnatal growth retardation, microcephaly and, so far, moderate developmental delay. Conventional GTG banded chromosome analysis indicated a small deletion in distal 2q. Subsequent analysis by fluorescent in situ hybridization (FISH) using different probes allowed us to narrow down the deletion to most or all of segment 2q33.3. This case shows the importance of the application of different YAC probes for a precise determination of breakpoints in small interstitial deletions.

Original languageEnglish (US)
Pages (from-to)227-230
Number of pages4
JournalAmerican journal of medical genetics
Volume102
Issue number3
DOIs
StatePublished - Aug 15 2001

Keywords

  • Chromosome deletion 2q33.3
  • Fluorescent in situ hybridization (FISH)
  • Submicroscopic deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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