Duplication 1q as primary and 3q in t(3;13) as secondary aberration in Fanconi anemia: Implications and literature review

Achandira Muthappa Udayakumar, Kamarus Nazreen-Banu, Salam Al-Kindi

Research output: Contribution to journalArticle

Abstract

Fanconi anemia (FA) is a genetic disorder of chromosomal instability. One of the routine methods of confirmation for FA includes chromosome breakage analysis, using crosslink-inducing agents. Bone marrow karyotyping at diagnosis and further follow-up will aid in detecting aberrations. If present, they might be indicative of a possible karyotype evolution, leading to poor prognosis. We report a FA patient with two distinct karyotypes: 46,XY,dup(1)(q21q31) in the first diagnostic sample and 46,XY,dup(1)(q21q31),der(13)t(3;13)(?q26;p12) in the second, after a span of two years. We discuss the possible karyotypic evolution, the implications of chromosome 13 involvement and regions/genes on chromosomes 1q and 3q in FA. The importance of periodic examination of bone marrow in these patients, for detection of cryptic aberrations which might lead them to MDS/AML, is also discussed.

Original languageEnglish
JournalActa Haematologica Polonica
DOIs
Publication statusAccepted/In press - May 27 2015

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Keywords

  • Chromosomal breakage
  • Fanconi anemia
  • Karyotype evolution
  • Poor prognosis
  • Secondary changes

ASJC Scopus subject areas

  • Hematology
  • Oncology

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