Prenatal diagnosis of deletion 11q23-->qter. Report of two unrelated cases.

Two cases of de novo deletion of the region distal to 11q23 were detected at cordocentesis, following sonographic evidence of malformations. Consistent findings in both fetuses were an abnormal amount of amniotic fluid, growth retardation, heart and renal defects. At delivery, the characteristic facial dysmorphisms of del(11q23) syndrome were also detected, including trigonocephaly, hypertelorism, abnormal slant of palpebral fissures, micrognathia and abnormal ears.

[Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report]. / La sindrome di Turner. Analisi citogenetica di 165 pazienti con S. di Turner. Prima comunicazione.

Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.

[Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature]. / Mosaicismo 45,X/46,X,r(Y) associato a disgenesia gonadica mista. Descrizione di un caso e rassegna della letteratura.

The structural anomalies of Y chromosome even if rare, are very interesting for the possibility of mapping male-determining genes. The authors report a case of ring (Y) chromosome to further elucidate the phenotype associated with a deleted Y chromosome and to present informations about the location of genes on the Y chromosome. The literature's cases are also reviewed and compared to Author's.

Increased chromosomal breakage in epileptic children after long-term treatment.

To investigate the mutagenic effects of antiepileptic drugs (AED), 39 epileptic children treated by long-term monotherapy (10 cases with Pb, 11 with Cbz, 9 with Vpa, 8 with Pht) have been studied. The long-term administration was monitored by measurement of AED serum concentrations by gaschromatography. Metaphase chromosome observations were performed using short time culture of peripheral blood lymphocytes and 100 mitoses from each proband were analyzed. A significant increase of CA in the group of patients with Pb (0.23), Cbz (0.19), Vpa (0.25), Pht (0.18) as compared with those of nine epileptic children without treatment (0.08) has been found. Because unrepaired damage of DNA may act as a possible carcinogenic potential, the shortest possible duration of AED treatment is recommended.

Infantile spasms and the CHARGE association.

A case is reported who had developmental delay, infantile spasms and the salient features of the CHARGE association--colobomatous micropthalmia, congenital heart-disease, mental retardation and hearing loss. This syndrome represents a distinct and clinically recognisable entity, and should be considered in patients with infantile spasms and ocular malformations.

Ultrastructural and biological characterization of human choroid cell cultures transformed by Simian Virus 40.

A human diploid cell line of choroid origin was isolated from the retrouveal portion of an enucleated eye and designated HC. After 10 passages, when the proliferative capacity of HC cells decreased, they were infected and transformed by Simian Virus 40 (SV40). A proliferating long-term cultured cell line designated HC/SV40 was established and it has been maintained as monolayer for more than 100 passages so far. The two cell lines, HC and HC/SV40, were compared for growth characteristics, capacity to form colonies in soft agar, presence of nuclear T-antigen, and ultrastructure. Cytogenetic analysis was also performed to determine the presence of chromosomal aberrations due to the permanent viral transformation of the cell line. The results indicate that HC/SV40 should be considered the transformed counterparts of HC cells because they are morphologically similar to the latter but can grow in soft agar, possess T-antigen, and show a pattern of karyotypic changes similar to that induced by SV40 in human fibroblasts. The choroid origin of HC and HC/SV40 cell lines was confirmed by the presence, in their cytoplasm, of typical electron dense granules. Their neural origin will make these cell lines very useful for neuropharmacological and differentiation studies.

Mating between two balanced translocation carriers in two unrelated families.

Partial trisomy 9p and a 13/14 translocation occurred in the daughter of a t(5;9)(p15;p12) mother and a t(13;14)(p11;q11) father. Two additional offspring displayed a normal karyotype and a translocation trisomy 13 respectively. Two first cousins, selected for chromosome analysis because of a spontaneous abortion, were found to have an identical translocation t(14;21)(p11;q11). Their second pregnancy was monitored by midtrimester amniocentesis and disclosed a balanced fetus. The different zygotic chromosome constitutions and the counselling problems in the marriages between two balanced translocation carriers are discussed.

t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome.

Two cases of t(21q21q)/r[t(21q21q)] mosaic in unrelated infants, 17 and 14 months old respectively are reported. The proportion of cells with the ring chromosome was 45% in the former, 80% in the latter. Both cases had mild manifestations of the Down's syndrome. The origin of this unusual mosaicism as well as the significance of the difference in the proportions of the ring chromosome in the two have been discussed.

[Fanconi's anemia type Estren-Dameshek. A case report (author's transl)]. / Anemia di Fanconi tipo Estren-Dameshek. Descrizione di un caso.

A clinical, hematological and cytogenetical study has been carried out in a patient with Fanconi's anemia. The absence of phenotypical alterations at clinical and instrumental surveyor suggested a frame in a variant type Estren-Dameshek. The genetical problem between the classical and variant form is not yet established. The cytogenetical analysis in this case, and recent data show the impossibility to distinguish between the two forms, as regard to the frequency and characters of chromosomical instability. On the whole, the chromosomes data derived from recent studies give no support to the idea of cytogenetic heterogeneity between subjects affected by these two forms of childhood aplastic anemia.

Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2.

A 33p+ chromosome in the lymphocytes of an infant with mental deficiency and congenital malformations was found to be a de novo translocation that could not be characterized by banding methods. The demonstration of a dosage effect for four enzymes--TPI, GAPHD, LDHB, and ENO2--in the infant's erythrocytes was consistent with trisomy 12p. The observation demonstrates the usefulness of information provided by the human gene map in the characterization of small chromosome imbalances which defy accurate identification by available banding techniques.