Lothar Pelz

Body height in Turner's syndrome

Disease‐specific growth curves for Turners syndrome were calculated by means of 2nd order homogeneous differential equations with constant coefficients, taking different cytogenetical subtypes into account. Comparison of these growth curves between X‐monosomic (n=64) and 46,XX/45,X‐mixoploid (n = 20) patients reveals no differences, in contrast to the commonly accepted opinion.

Isochromosome (18q) in siblings

A report is presented on a familial occurrence of isochromosome (18q) in a newborn infant and in a fetus in the 24th week of gestation after amniocentesis.

Long‐term follow‐up in females with Ullrich‐Turner syndrome

In accordance with Nielsen & Stradiots protocol (1987), we report on the long‐term follow‐up in 50 adult females with Ullrich‐Turner syndrome. Attention is drawn mainly to social problems.

Informative morphogenetic and phenogenetic variants in children with cleft lip/cleft palate.

In 230 patients with nonsyndromic cleft lip/cleft palate (138 boys and 92 girls) and in 226 age related healthy children (137 boys and 89 girls) informative morphogenetic and phenogenetic variants (IMV and PHV, respectively) were investigated. There was no difference between the number of IMVs between both groups (chi 2 = 5.89; d.f. = 3; alpha > 0.70). This finding is in line with the hypothesis that facial cleft disorders occur during blastogenesis, whereas IMVs and PHVs are typical patterns of the embryo- and fetogenesis. The anthropometric findings are contradictory. In a few non-craniofacial phenogenetic variants significant differences were found between the patients and the healthy children. Intrinsic factors or secondary sequelae of the primary defect might additionally act in the morphological fine tuning of children with single cleft lip/cleft palate.

A new type of familial chromosome translocation involving 3p and 6q in two unrelated families

In two unrelated families a new type of chromosomal translocation [t(3;6)(3qter~3p21::6q26~6qter; 6p ter~6q26: :3p21~ 3pter)] has been observed. From a clinical point of view, it is associated with repeated spontaneous abortions in the mothers as well as with severe malformations in the index patients, e.g., arhinencephaly, ethmocephaly, absence of the falx cerebri, and brain malformation presenting as holoprosencephaly in a German case and hydrocephalus internus in a Czechoslovakian affected fetus. We would like to contact other colleagues who have observed similar cases, for more detailed analysis and for eventual joint publication.