Showing papers by "Arleen D. Auerbach published in 1981"

Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method.

Abstract: Fanconi anemia (FA) is characterized by pancytopenia, spontaneous chromosome instability, and a variety of congenital anomalies. Variable phenotype and age of onset of anemia make accurate diagnosis difficult in some patients. We report a cytogenetic method for rapid diagnosis of FA homozygous blood lymphocytes and amniotic fluid cells, and FA heterozygous blood lymphocytes. When treated with 0.1 micrograms/ml of diepoxybutane, affected lymphocytes responded with approximately a 175-fold increase in chromosome breakage compared with that exhibited by similarly treated lymphocytes from normal individuals or patients who manifest some clinical features of FA. The breakage in affected lymphocytes was characterized by multiple complex chromatoid exchanges. Amniotic fluid cells from four fetuses at risk for FA were studied. Three of these were diagnosed as affected and the fourth as normal on the basis of spontaneous and diepoxybutane-induced chromosome breakage. Lymphocytes from FA heterozygotes showed a fourfold increase in chromosome breakage characterized by chromatid exchange when compared with control lymphocytes. Prenatal and postnatal diagnosis of FA and detection of carriers can therefore be performed with ease by making use of the method described here.

Dyskeratosis Congenita and Intracranial Calcifications

Abstract: To the Editor.— In the December 1979Archives(115:1437-1439), Mills et al described two brothers with dyskeratosis congenita (DC) who also had massive intracranial calcifications detected on skull roentgenograms. The authors stated that this finding had not been previously described in patients with this syndrome, although only a small number of pertinent negative statements could be found in the literature. Report of Cases.— We have recently observed two West Indian brothers, aged 21 and 15 years, with DC. Both of them have the characteristic reticulated cutaneous hyperpigmentation and dystrophy of the nails. Neither of them has leukoplakia, although the younger brother has splotchy hyperpigmentation of the oral cavity. Both have mild anemia (hematocrit readings, 37.1% and 37.7%), leukopenia (leukocyte levels, 3,300 and 3,000/cu mm), and thrombocytopenia (platelet levels, 20,000 and 45,000/cu mm). There has been no evidence of malignant neoplasms to date. Neither brother has had any neurologic disorders, although