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Late diagnosis of Down syndrome due to incorrect cytogenetic diagnosis and extreme prematurity
Author(s) -
Druce Maralyn,
Cohen Ian J.,
Naor Norah,
Shohat Mordechai
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04087.x
Subject(s) - down syndrome , karyotype , gestation , gestational age , pediatrics , medicine , prenatal diagnosis , obstetrics , pregnancy , fetus , chromosome , biology , genetics , gene
A 26‐week gestation, premature neonate who developed a transient myeloproliferative disorder is presented. The morphological features of Down syndrome were not obvious at this gestational age, and the cytogenetic studies gave a misleading normal karyotype after the infant received non‐irradiated blood. The diagnosis of Down syndrome was not made until 27 weeks after delivery. The problem of misleading cytogenetic results is discussed in particular in premature infants receiving transfusions with non‐irradiated blood products. Although the possibility of uniparental diosomy due to loss of one chromosome 21 was not excluded, this seems to be the first report of a false‐normal cytogenetic study after non‐irradiated blood.