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

R. H. Adams, R. S. Lemons, M. Thangavelu, M. M. Le Beau, R. D. Christensen

Research output: Contribution to journalArticle

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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/mm3, consistent with either transient myeloproliferative 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
StatePublished - 1989
Externally publishedYes

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Chromosomes, Human, Pair 5
Down Syndrome
Newborn Infant
Karyotype
Bone Marrow
Complement C5
Immunophenotyping
Platelet Count
Leukocyte Count
Leukemia
Clone Cells
Parturition
Therapeutics

ASJC Scopus subject areas

  • Hematology

Cite this

Adams, R. H., Lemons, R. S., Thangavelu, M., Le Beau, M. M., & Christensen, R. D. (1989). Interstitial deletion of chromosome 5, del(5q), in a newborn with Down syndrome and an unusual hematologic disorder. American Journal of Hematology, 31(4), 273-279.

Interstitial deletion of chromosome 5, del(5q), in a newborn with Down syndrome and an unusual hematologic disorder. / Adams, R. H.; Lemons, R. S.; Thangavelu, M.; Le Beau, M. M.; Christensen, R. D.

In: American Journal of Hematology, Vol. 31, No. 4, 1989, p. 273-279.

Research output: Contribution to journalArticle

Adams, RH, Lemons, RS, Thangavelu, M, Le Beau, MM & Christensen, RD 1989, 'Interstitial deletion of chromosome 5, del(5q), in a newborn with Down syndrome and an unusual hematologic disorder', American Journal of Hematology, vol. 31, no. 4, pp. 273-279.
Adams, R. H. ; Lemons, R. S. ; Thangavelu, M. ; Le Beau, M. M. ; Christensen, R. D. / Interstitial deletion of chromosome 5, del(5q), in a newborn with Down syndrome and an unusual hematologic disorder. In: American Journal of Hematology. 1989 ; Vol. 31, No. 4. pp. 273-279.
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