N. Okamoto et al., HEREDITARY SPHEROCYTIC ANEMIA WITH DELETION OF THE SHORT ARM OF CHROMOSOME-8, American journal of medical genetics, 58(3), 1995, pp. 225-229
We describe a 30-month-old boy with multiple anomalies and mental reta
rdation with hereditary spherocytic anemia. His karyotype was 46,XY,de
l(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) w
ere localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six
patients with spherocytic anemia and interstitial deletion of 8p- hav
e been reported. In these patients, severe mental retardation and mult
iple anomalies are common findings, This is a new contiguous gene synd
rome, Lux et al. [1990: Nature 345:73;739] established that ankyrin de
ficiency and associated deficiencies of spectrin and protein 4.2 were
responsible for spherocytosis in this syndrome. We reviewed the manife
stations of this syndrome. Patients with spherocytic anemia and multip
le congenital anomalies should be investigated by high-resolution chro
mosomal means to differentiate this syndrome. (C) 1995 Wiley-Liss, Inc
.