Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.

We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most frequently seen in proximal 11q deletions involving 11q21. Telomeric staining using the PRINS technique demonstrated normal telomeric sequences in the deleted chromosome 11.

Thymic epithelial abnormalities in patients with congenital heart disease and Down's syndrome.

Among 85 children (< 5 years) operated on for congenital heart disease, we found 15 with structural changes of the thymus consisting of epithelial ducts and cysts. Nine of the children had Down's syndrome. In only two of these did we find epithelial abnormalities. In conclusion, these changes were not more frequent in children with Down's syndrome than in other patients with congenital heart disease.

Normal karyotype in cultured chorionic villus cells, but mosaicism in amniotic and fetal cells.

A case with a normal male karyotype in cultured chorionic villus cells, but 46,XY/45,X/46,X,i(Yq) mosaicism in amniotic and fetal tissue is reported. The fetus was a phenotypic male. Pathological examination revealed discrete features, which might indicate a syndrome, and histological examination showed large, bright cells in the tubules of the testes. Possible explanations for discordance between the karyotype of embryonic and extraembryonic tissue are discussed.

A fetal testis with intratubular germ cell neoplasia (ITGCN).

A fetal testis with abnormal germ cells similar to the cells of intratubular germ cell neoplasia (ITGCN) or so-called carcinoma in situ is presented. Elective abortion was performed in week 18 of the pregnancy of a 26-yr-old woman, because of 21 trisomy (Down's syndrome) at amniocentesis. At microscopical examination abnormal germ cells were found, similar to those occurring in the adult testis and with the same distribution as those described in ITGCN in children with dysgenetic gonads and with androgen insensitivity syndrome. PAS positivity and placental-like alkaline phosphatase (PLAP) was demonstrated in the abnormal germ cells. The finding indicates that the first event of germ cell tumor oncogenesis may take place before birth, in utero or even before. The occurrence of ITGCN in Down's syndrome has not been reported previously but is likely to occur, as there is evidence that these patients have increased risk of developing germ cell tumors.

[Fetal pathology--in relation to prenatal diagnosis and genetic counseling]. / Føtalpatologi--i relation til praenatal diagnostik og genetisk rådgivning.

The results of systematic autopsies of 29 fetuses from a consecutive material consisting of 19 late spontaneous abortions and four induced abortions from the Department of Gynaecology and Obstetrics in the Municipal Hospital in Arhus are presented. Where the spontaneous abortions were concerned, a cause of the abortion was revealed in 15 out of 19 cases (79%). Infection caused eight abortions, pathological placental conditions caused four, umbilical cord complications one case, an IUD in utero one case and severe fetal malformations one case. Serious congenital malformations were present in six out of the total number of 29 fetuses (21%). The diagnoses could be established in five cases and the risk of recurrence could be assessed. Increased fetal pathological activity in the form of systemic fetal pathological examinations will result in improved genetic counselling, more certain prenatal diagnosis and improved understanding of the pathogenesis of congenital deformities.

[Alveolocellular carcinoma diagnosed by bronchoalveolar lavage]. / Alveolecellekarcinom diagnosticeret ved bronkoalveolaer lavage.

Alveolocellular carcinoma is localized to the bronchioles and alveoli and the diagnostic procedures usually employed will only rarely contribute to the diagnosis. A case is presented where performance of fiberbronchoscopy and bronchoalveolar lavage with cytological examination of the cyto-centrifuged preparation led to the diagnosis of alveolocellular carcinoma in a patient with diffuse infiltrates.

Intravascular "mulberry-like" bodies: morphological, immunohistochemical, and ultrastructural observations of an incidental finding caused by autolysis?

Intravascular "mulberry-like" bodies in a stillborn female infant with moderate maceration are reported. The histogenesis of these structures is discussed based on light-microscopic, immunohistochemical and ultrastructural findings. No demonstrable causal relation between the intravascular lesions and fetal death was found, the cause of death being attributed to intrauterine asphyxia. It is concluded, that intravascular "mulberry-bodies" most likely represent artifacts due to red blood cell autolysis.

The thymus in congenital heart disease.

Some cases of thymus developmental defects (DiGeorge's syndrome) are associated with the development of defects of the heart and great vessels. To see if anomalies of the heart are also associated with anomalies of the thymus, a material of thymus tissue removed during operation for congenital heart disease was compared with thymus tissue from a forensic autopsy material representing the same age group, but without cardiac lesions. Among 27 cases of congenital heart disease, occurrence in the thymus of solid epithelial cords were seen in 6 and cyst- or duct-like structures were found in 7. Among 47 forensic cases, 1 showed cords and another showed duct-like structures. Of these, one had congenital anomalies in the form of hepatic hamartomas and nesidioblastosis, whereas the other had died from morbilli, raising the possibility of congenital immune deficiency. Anyhow, a striking occurrence of minor morphological deviations in the structure of the thymus was found in children with congenital heart disease. Such material therefore may be less suitable for studying the morphology and biology of the normal thymus gland.