Molecular analysis of 53 fragile X families with the probe StB12.3.

Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis.

Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.

Among the central nervous system (CNS) dysmyelinating disorders, Pelizaeus-Merzbacher disease (PMD) has been individualized by its X-linked mode of inheritance and the existence of corresponding animal models. Mutations in the major myelin proteolipid (PLP) gene coding for PLP and its splicing variant DM20 protein, have been demonstrated in animal mutants and more recently in PMD affected patients. We have identified, in a two-generation PMD affected family, an insertion/deletion event in the exon IV of the PLP gene, leading to the synthesis of predicted truncated PLP and DM20 proteins with altered carboxyl terminal end.

"Isolated" hydrocephalus in families of spina bifida and anencephaly: a coincidence?

Hydrocephalus is a frequent complication of spina bifida. We wanted to find out if the risk of isolated hydrocephalus was greater in families with NTD (anencephaly and spina bifida) from 424 families studied between 1975 and 1984 in Brittany. The risk of recurrence of NTD is 1.

An attempt to differentiate female relatives of Duchenne type dystrophy from healthy subjects using an automatic EMG analysis.

A new automatic EMG analysis and on-line assignment of MUAP into 8 dynamic cluster algorithm classes (P1...

[Essential deformans osteolysis. Report of a case with progressive and generalized evolution (author's transl)].

The authors report a clinical and radiographic course of a 16 years old caucasian girl with a progressive deformation of her skeleton. The primary lesions occur in knees and wrists. This disease was at first considered as a rheumatoid arthritis, then as a dysplasia epiphysialis multiplex, and now as essential deformans osteolysis (with carpal lysis, shortening of the forearm bones, dislocation of the elbows, disparition of the humeral and femoral heads, contracture of hips and knees, posterior tarsal lysis, and kypho-scoliosis).

X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs. Report of a family.

A new family is reported of a Bickers-Adams-Edwards syndrome. This family has been studied up to three generations. Two female carriers are known.