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The authors describe 7 male patients from two unrelated families who presented with what appears to be a heretofore undiagnosed X-linked variant of Ehlers-Danlos syndrome. Unlike the eight previously reported types, this variant is manifested by specific skeletal abnormalities, including occipital exostoses, widening and bowing of multiple long bones at tendinous and ligamentous insertion sites, and deformed clavicles. Major clinical complications include genitourinary problems, chronic diarrhea with malabsorption, and/or syncopal episodes. Laboratory tests suggest that this variant may represent the true lysyl-oxidase-deficient form of Ehlers-Danlos syndrome.

Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal folds. With age, his hypotonia has improved. The parents have normal chromosomes; the mother has a 9qh+ variant. The second patient, a girl, presented at birth with multiple congenital anomalies including cleft palate, epicanthal folds, anteverted nostrils, horseshoe kidneys and club feet. At 4 years of age, she was small and severely retarded. The normal parents and the normal sister showed no chromosomal abnormalities. Gene mapping studies in both patients failed to define a specific gene locus to the deleted chromosome regions. Including these two patients, there appear to be only three reported cases of patients with 5q deletion. A comparative description of the third patient is included in this report. There are some clinical similarities but these are inadequate to identify a clinical syndrome. This perhaps is explained by some quantitative and qualitative differences in the deletions.

Summary. The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q-;13q+), in several asymptomatic members of the family including the propositus' mother. This indicates that the propositus had partial trisomy for the distal one-third of the long arm of chromosome 4. Review ofthe literature suggests that urinary tract and genital anomalies may be a consistent feature of this partial trisomy.Chromosomal translocations are found in approximately 0-140/% (1/700) of all newborn babies (Sergovich et al, 1969, Walzer, Breau, andGerald, 1969;Lubs and Ruddle, 1970;Ratcliffe et al, 1970;Turner and Wald, 1970). Of these, one-third are reciprocal translocations resulting from the mutual exchange of chromosome segments between two non-homologous chromosomes. Individuals bearing both products of the exchange ('balanced translocation carriers') are generally normal phenotypically because they have lost little or no genetic material. However, such translocation heterozygotes may transmit to their offspring only one of the two translocation chromosomes, and this results in a child with chromosomal deficiency or duplication. It is the consequent congenital anomalies that bring the family to the attention of a physician. We report here a family in which a balanced transloca-

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