Search PubMed⌕ Search

Biomedical subjects

M Osztovics

Publications and source records attributed to M Osztovics.

At least 19 recordsLinked to original sources
PubMed1987

Partial deletion of short arm of chromosome 8.

46, XY, del(8) (p21-pter) aberration was found in a 5 year old boy with moderate craniofacial dysmorphia, mental and somatic retardation. The cytogenetic and clinical features of the patient were compared to 11 cases found in the literature. Partial 8p monosomy does not produce a unique phenotypic alteration. Postnatal growth deficiency, craniofacial dysmorphia and mental retardation are the main and common characteristics of many structural autosomal aberrations. The importance of cytogenetic analysis in such cases is stressed.

Child, Preschool↗
PubMed1984

Partial deletion of short arm of chromosome 18.

Three cases of partial deletion of the short arm of chromosome 18 (pll-pter) are presented. The cytogenetic and clinical features of the patients observed are compared to cases found in the literature. 18p-aberration produces a fairly unique phenotypic alteration, but on the sole basis of the clinical manifestation, without cytogenetic analysis, correct diagnosis cannot be established.

Child↗
PubMed1982

Unusual chromosome aberrations in 3 children with Down syndrome.

In 3 children with Down syndrome extremely rare chromosome aberrations were found. In the first patient, the karyotype showed 46 chromosomes with a de novo duplication of the q22-qter segment. This finding supports that the 21q22-qter band was responsible for the characteristic mongoloid features. In the second case, trisomy 21 was present and out of 78 investigated cells, 60 contained a small, supernumerary marker chromosome in addition to trisomy 21. The parents were cytogenetically and clinically normal. In the third case trisomy 21 with inv(10) (p13q22) occurred. The inversion was inherited from the mother with diminished fertility.

Child, Preschool↗
PubMed1982

11q--syndrome.

Explore the source record for details and available documents.

Chromosome Deletion↗
PubMed1982

Ring chromosome 15.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1981

[Cytogenetic investigations in 817 dysmorphic babies].

By means of G-, C-, and Q-banding techniques 817 dysmorphic children under 1 year of age were cytogenetically investigated. 184 cases of Down's syndrome, 54 cases of various numerical or structural autosomal aberrations, and 29 cases of gonosomal aberration were discovered. The criteria of dysmorphia are the following: intra-, and/or extrauterine retardation, occurrence of minor and/or major malformations, dysfunction of the central nervous system, and the ambiguity of the external genitals, respectively. The proper evaluation of the dysmorphic signs markedly increases the efficiency of the cytogenetical studies. According to the results, the principles applied in 16 patients the background of the dysmorphic features of a pericentric inversion of chromosome No 9 could be disclosed. This phenomenon earlier regarded as polymorphism or normal variant seems to be playing an important role in the etiology of unspecified dysmorphic syndromes. The early detection of a chromosomal aberration ensures the correct judgment of the diagnosis and the prognosis of the patient and by tracking down the carrier family members helps in the prevention, too.

Chromosome Aberrations↗
PubMed1981

Evaluation of information-guidance genetic counselling.

The impact of information-guidance type of genetic counseling was evaluated for the family planning of 2082 consultands. The understanding of the risks, parental decision, and the number of induced and spontaneous abortions were evaluated by the use of questionnaires. The stillbirths, livebirths, infant deaths, and babies with inherited or congenital anomalies were checked by experts. When pregnancy was recommended the rate deterred was 4.7% while this rate was 61.7% and 60.7% when pregnancy was not recommended or pregnancy required consideration. When pregnancy was not recommended, 43.5% of offspring had congenital anomalies, while this value fitted with random risk (4%) in offspring born after recommended pregnancies.

Congenital Abnormalities↗
PubMed1981

Hyperuricaemia associated with 18q deletion. Atypical Lesch-Nyhan syndrome?

The existence of a clinically typical Lesch-Nyhan syndrome was observed in a male infant with 18q deletion syndrome. Indirect hypoxanthine-guanine-phosphoribosyl transferase activity determination demonstrated a normal value, and thus the possibility of Lesch-Nyhan syndrome linked to the X-chromosome may be excluded. It is assumed that the uric acid metabolism must be under the primary or secondary effect of one or other of the gene loci on the long arm of chromosome 18, since the existence off a hyperuricaemic syndrome was observed in this 18q deletion patient.

Chromosome Deletion↗