TY - JOUR
T1 - Interstitial deletion of chromosome 5, del(5q), in a newborn with down syndrome and an unusual hematologic disorder
AU - Adams, Roberta H.
AU - Lemons, Richard S.
AU - Thangavelu, Maya
AU - Beau, Michelle M.Le
AU - Christensen, Robert D.
PY - 1989/8
Y1 - 1989/8
N2 - 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.
AB - 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.
KW - cell culture
KW - chromosome deletions
KW - cytogenetics
KW - hematopoietic growth factors
KW - transient myeloproliferative disorder (TMD)
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U2 - 10.1002/ajh.2830310412
DO - 10.1002/ajh.2830310412
M3 - Article
C2 - 2525873
AN - SCOPUS:0024406060
SN - 0361-8609
VL - 31
SP - 273
EP - 279
JO - American journal of hematology
JF - American journal of hematology
IS - 4
ER -