We report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum. A comparison of clinical and cytogenetic findings in similar cases suggested that the critical genes for the Goltz and Aicardi syndromes might be contiguous in the region Xp22.31.
SummaryA 3-year-old boy with Costello syndrome is reported. He had typical clinical features of the syndrome including severe postnatal growth retardation, poor sucking, mild developmental delay, a coarse characteristic facies, thick and loose skin of the hands and feet, sparse and curly hair, dark skin, and relative macrocephaly but lacked nasal papillomas. In addition, he had cardiac anomalies with extrasystoles and thick mitral valve tips. Mitral valve defects may be a clinical feature of the syndrome.
Haemoglobin, serum iron, total iron binding capacity, and serum ferritin were determined in newborns of 16 mothers with iron deficiency anaemia, 28 mothers with non-anaemic iron deficiency, and nine mothers with normal haemoglobin and serum ferritin levels. The results showed that there were no significant differences in the mean values of haemoglobin, serum iron, and total iron binding capacity among the newborns in the three groups. However, the mean value of serum ferritin differed significantly among the three groups, with the lowest values found in newborns of mothers with iron deficiency anaemia.
Replication kinetics of the Prader-Willi syndrome critical region (15q11.2) was investigated in seven normal healthy adult females using RBG replication bands. Replication asynchrony between homologs 15q11.2 was identified consistently in about 40% of cells in all individuals. It was limited to the stages in which Xp22, Xp11, Xq13 and Xq24/26 were visible in the late-replicating X chromosome. This asynchrony suggested that replication timing overlapped between 15q11.2 and the early replicating R-bands of the late X chromosome in some cells, and that the difference in replication timing between homologs was probably related to genomic imprinting; the latter has been suggested as a pathogenetic basis of Prader-Willi syndrome. As a result of an analysis of the proportions of asynchronous and synchronous cells in each replication stage, two types of cells were deduced providing 1:1 methylation mosaicism of genomic imprinting was assumed. The first type was composed of cells with normal replication in one homolog and delayed replication in the other. The second type was composed of cells with normal replication in both homologs. Our results provide cytogenetic evidence of methylation mosaicism for mammalian genomic imprinting.
We report five patients with ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and, in addition, macular dystrophy which was presumed to be progressive, in an isolated population on a remote island in Japan. The heredity of this syndrome was thought to be autosomal recessive. Three cases have been reported so far with a combination of the same abnormalities. The parents in these cases were consanguineous.' 2 Among the syndromes of ectodermal dysplasia associated with malformations of the extremities, there are Roberts's syndrome,' EEC syndrome,4 the syndrome reported by Robinson et al,5 the syndrome reported by Freire-Maia,6 and the syndrome reported by Bowen and Armstrong.7 However, these syndromes clearly differ from the syndrome described in this paper, because they lack the characteristic findings in the ocular fundus. Case reports CASE I The proband (V * 1, fig I) was a 1 61-year-old girl when
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