We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.

We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(l) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(l) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.

No abstract

We report a case of monosomy for the distal region of the short arm of chromosome 10 (pl3-+ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2-+ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;pl3).We review the clinical findings of previously reported cases of both partial monosomy for 10p and of partial trisomy for 5q, but to our knowledge there are no previous reports of the effects of these two chromosome anomalies together. Clinically our patient showed features typical of partial monosomy for 10p (including hypothyroidism) rather than partial trisomy 5q.At least 24 cases of partial deletion of the short arm of chromosome 10 have been previously reported,' with the breakpoint occurring most frequently in the segment 10pl3,23 the majority (80%) having arisen de novo. The number of cases of distal trisomy 5q is small. To our knowledge, only 10 cases have been discovered that carry a duplication of the segment distal to band 5q31.4Case report The proband (fig 1) was born to non-consanguineous Caucasian parents at 35 weeks' gestation. The mother was a 37 year old primigravida and the father was 40 years old. The pregnancy was uneventful and no amniocentesis or scan was performed. At birth the baby was flat and required intubation for two and a

We report a case of Klinefelter's syndrome owing to maternal meiotic error associated with triphalangeal thumb and delta phalanx bilaterally. There are no previous reports of similar cases and triphalangism with delta phalanx abnormalities of both thumbs might therefore be considered a further, but rare, manifestation of this aneuploidy.