Interstitial deletion of chromosome 5, del(5q), in a newborn with down syndrome and an unusual hematologic disorder

Roberta H. Adams, Richard S. Lemons, Maya Thangavelu, Michelle M.Le Beau, Robert D. Christensen

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

A newborn with Down syndrome was noted on the 1st day of life to have an elevated white blood cell count of 79,900/mm3 with 62% lymphoblasts and a platelet count of 61,000/3, consistent with either transient myeloproliterative disorder of Down syndrome (TMD) or acute leukemia. Karyotype analysis of a bone marrow aspirate revealed that 20% of the cells had a 47,XY, + 21 karyotype, and 80% had a 47,XY, + 21, del(5)(q13q31) complement. Cytochemical and immunophenotyping of the peripheral blasts were consistent with the presence of an acute undifferentiated precursor blast clone. Results of clonogenic assays of hematopoietic progenitors from this patient's bone marrow were similar to those of patients with TMD. This patient's hematologic abnormalities resolved spontaneously without treatment by week 10 of life. This is the first report of an interstitial deletion of 5q associated with a hematologic abnormality present in an infant at birth.

Original languageEnglish (US)
Pages (from-to)273-279
Number of pages7
JournalAmerican journal of hematology
Volume31
Issue number4
DOIs
StatePublished - Aug 1989

Keywords

  • cell culture
  • chromosome deletions
  • cytogenetics
  • hematopoietic growth factors
  • transient myeloproliferative disorder (TMD)

ASJC Scopus subject areas

  • Hematology

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