Fine needle aspiration cytodiagnosis of subcutaneous fat necrosis of newborn. A case report.

We recently diagnosed subcutaneous fat necrosis in a newborn female infant using fine needle aspiration cytology. The neonate had perinatal asphyxia and her mother a difficult labor, but otherwise the neonate was well developed and healthy and within a few days developed well-defined areas of subcutaneous induration all over. On cytologic examination of the aspirated material, many necrotizing fat cells were found with refractile, needle-shaped crystals arranged in a sheaflike or starburst pattern. Subcutaneous fat necrosis of the newborn is uncommon today, and although the histologic findings from excised tissue are known, this appears to be the first case in which the diagnosis was possible from a sample of fine needle aspirate.

Bloom syndrome and maternal uniparental disomy for chromosome 15.

Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions.