Cytogenetic effects during extracorporeal photopheresis treatment of two patients with cutaneous T-cell lymphoma.

The effect of extracorporeal photopheresis (EP) on various cytogenetic parameters has been investigated. During EP the photoactivatable agent 8-methoxypsoralen (8-MOP) was administered orally. After 2 h a leukocyte-enriched blood fraction was collected by haemocentrifugation, irradiated with UVA extracorporeally, and reinfused to the patient. Two patients suffering from cutaneous T-cell lymphoma showed a marked clinical improvement in response to therapy. In order to investigate the cytogenetic effects and mutagenic risk of EP, the mitotic index (MI), the type and number of chromosomal aberrations and the rate of sister chromatid exchanges (SCE) were studied. Following EP treatment the patients' lymphocytes were cultured and stimulated with phytohaemagglutinin (PHA) for 48 or 72 h. The cultured lymphocytes showed a decreased MI after 48 h as an indicator of cytotoxic effects, but not after 72 h. In lymphocyte cultures not stimulated with PHA, the MI was decreased even after 72 h. The number of chromosomal aberrations and SCE were increased upon treatment, but only transiently, returning to basal levels between consecutive treatments. Our data provides no evidence for increased mutagenic risk as a consequence of effective EP treatment.

[Familial nystagmus and hypoplasia of the macular in reciprocal, balanced translocation 5/16]. / Familiärer Nystagmus und Hypoplasie der Makula bei reziproker, balanzierter Translokation 5/16.

We observed three patients with nystagmus and hypoplasia of the macula. The patients had a translocation of 5/16.

Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks' gestation.

Cardiac defects were studied in five chromosomally abnormal embryos of 10-14 weeks' gestation by free-hand microdissection of hearts measuring 2.5-6 mm in diameter. The type of cardiac malformation alone or in association with other anomalies helped to confirm the chromosome diagnosis established prenatally by chorionic villus sampling or after spontaneous abortion. It was suggestive of a chromosomal disorder in one case in which cytogenetic investigation had failed.

[Triploidy in newborn infants]. / Triploidie bei Neugeborenen.

Human triploidy, a common condition occurring in about 1 to 2% of all clinically recognizable pregnancies, is a rare finding in live-born children. Not more than 44 live-born triploid infants have been reported in the available literature. Triploid infants surviving for more than a few days have been suspected to be hidden mosaicisms and mostly have turned out to be diploid-triploid mosaics. We observed two live-born female infants with a complete triploidy and describe the typical clinical picture.

[Partial deletion of the short arm of chromosome 13 as an indication of paternity in forensic assessment]. / Partielle Deletion am kurzen Arm eines Chromosoms 13 als Hinweis auf Vaterschaft im Rahmen eines Gutachtens.

We report a paternity testing case in which a decisive clue was a deletion of the short arm of chromosome 13 in the child and in his putative father.

Report of a deletion 11 (qter----q23.3) and short review of the literature.

A male child is described with short stature, mental retardation and unusual facial appearance. Cytogenetic analysis revealed a partial deletion of the long arm of chromosome 11: 46,XY,del (11)(qter----q23.3:). A short review of previously reported cases of del 11q is presented. A comparison of the main clinical characteristics and the extent of the 11q deletion is given.

[Gonadoblastoma in an HY-negative pure XY-gonadal dysgenesis (author's transl)]. / Gonadoblastom bei einer HY-negativen reinen XY-Gonadendysgenesie. Endokrinologische, zytogenetische und histologische Befunde.

A case is reported of a gonadoblastoma in a pure XY-gonadal dysgenesis which was HY antigen negative. The salient clinical features were amenorrhoea and tall stature. The FSH was markedly increased, combined with low E2 and testosterone values. Cytogenetically a 46-XY karyotype was found. The HY antigen titre was in a male level. The gonadal streaks which were removed showed microscopically islands of tumour cells with 2 cell lines which were interpreted as germ cells and granulosa cells. Newer concepts of the influence of the HY antigen on the differentiation of the testicles and differentiation of the ovaries are discussed. Treatment consists of removal of the gonadal streaks and estrogen treatment.

[Successful bone-marrow transplantation after eleven years (author's transl)]. / Nachweis einer erfolgreichen Knochenmarkstransplantation 11 Jahre nach Ubertragung.

Bone-marrow transplantation for severe aplastic anaemia was performed in a 14-year-old boy in 1969. The transplanted marrow was not HLA identical: there was HLA-D incompatibility between the female donor and the recipient. The patient had had several blood transfusions and one course of cytostatic conditioning before the transplantation. Six years later he had carcinoma of the colon which was completely removed at surgery. Ten years after transplantation, chimaerism was demonstrated in the recipient who was then haematologically and clinically healthy and in full employment. The bone-marrow transplantation can thus be considered as successful.

Possible origin of a small bisatellited additional chromosome.

The possible derivation of a small supernumerary marker chromosome was investigated by means of different staining techniques and the frequency of satellite associations. It could be demonstrated that the marker chromosome participates at satellite association more than randomly. The marker chromosome is supposed to derive from 2 of chromosomes 13, 14, 21, or 22.

Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin.

A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation chromosome. However, no silver precipitation after AgNO3-staining was observed on the translocation chromosome, thus indicating a loss or genetic inactivation of the NOR-region of the translocated No. 15. These cytogenetic results and their possible relationship to the cri-du-chat phenotype are discussed.

[Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)]. / Blaue-Sklera-Syndrom und Keratoglobus (oculärer Typ des Ehlers-Danlos-Syndroms).

Two children born on Crete of consanguinous parents presented the following manifestations of the ocular type of Ehlers-Danlos syndrome (EDS): blue sclerae, keratoglobus and rupture of cornea following minor trauma. In cultivated fibroblasts of one of the patients there was no evidence of defective lysine hydroxylation. The possible relation of our case to a recent similar report by Judisch et al. (1976) is discussed. The ocular type of EDS may be genetically heterogenous. Provisionally, we propose for cases with normal lysyl hydroxylation in vitro the term 'type VIII of EDS'.