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A patient is reported with a severe type 2 Klippel-Feil syndrome, and absent ulna and ulnar ray. The severity of the musculo-skeletal involvement did not allow for corrective procedures. This uncommon association of skeletal malformations has not been previously reported. Since this syndrome has...
Genetic types of α1-antitrypsin (protease inhibitor types, or Pi types) were determined in 108 patients with rheumatoid arthritis. These patients were selected for severely destructive disease and had classical rheumatoid arthritis according to ARA criteria, were seropositive, and had joint...
It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the Same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented...
This paper suggests that there is probably a dominant, sex-linked type of chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include...
Clinical, cytogenetic, and immunological data of a 5-year-old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high...
A scheme is proposed for the analysis of X-linked recessive pedigrees using programmable calculators. The analysis of such pedigrees is reduced to two easily programmable operations that can be used by the counsellor in a step-wise fashion, entering the pedigree information sequentially. It is...
A new case of the Baller-Gerold syndrome is described in a 61/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformations. The parents and siblings were unaffected,...
An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). Two of these individuals werz products of a consanguineous mating with an inbreeding coefficient of F = 0.0391. The third affected individual (propositus), was born to a marriage in which the...
A pericentric inversion of chromosome 9 was detected in the father of a child with partial trisomy involving the long arms and partial monosomy of the short arms of chromosome 9. A gene dosage effect was demonstrated for adenylate kinase 1 in erythrocytes.
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