Search PubMed⌕ Search

Biomedical subjects

P Miny

Publications and source records attributed to P Miny.

80 records · Page 5Linked to original sources
PubMedDate not supplied

Trisomy 20 mosaicism.

A further case of trisomy 20 mosaicism found at amniocentesis is presented. Pregnancy was terminated, the fetus showed facial dysmorphia and minor cardial and renal anomalies. 19 published reports of true trisomy 20 mosaicism at amniocentesis are reviewed. Five pregnancies resulted in obviously normal newborns. The significance of mostly minor anomalies found at autopsy of 7 fetuses remains unclear. With regard to genetic counselling the significance of trisomy 20 mosaicism is summarized as follows: (1) true trisomy 20 mosaicism in amniotic fluid cells reflects mosaicism of the fetus; (2) severe malformation is not a major feature of trisomy 20 mosaicism; (3) the risk of mental retardation is still undetermined, due to limited experience. However, there is no definite proof that the condition is harmful at all.

Adult↗
PubMedDate not supplied

Beta-thalassemia problems in the Turkish population in the F.R.G.

A sample of 165 normal Turkish probands (79 males, 86 females) living in the F.R.G. was screened for the presence of heterozygous beta-thalassemia as well as their knowledge and perception of thalassemias in general. Hematologic studies revealed two persons to be heterozygous for beta-thalassemia who had not known this before. This incidence of 1.2% in our sample of Turkish probands living in the F.R.G. is in accordance with the average range of 0.2-6% given by the World Health Organization for Turkey. The probands' places of origin in Turkey correlate well with the pattern of migration within the country, with most people coming from central Anatolia which is an area with a relatively low incidence of beta-thalassemia. Interviews conducted by a Turkish doctor revealed that the knowledge about thalassemias and the function of blood in general was extremely limited in our study population. On the other hand, 50% of the respondents would refrain from marriage or choose a different partner if both partners knew that they were heterozygous for thalassemia. 19% would still marry in this situation but refrain from having children. When asked about their most likely decision in the case of an early diagnosis of homozygous thalassemia, 78% said they would have a termination and only 15% would definitely go on with the pregnancy. About 65% felt that consanguineous marriage is a predisposing factor for diseases in the offspring. From our study it can be concluded that a large-scale screening program in the high-risk population which exists in most Mediterranean countries would be difficult regarding the more than one million people from Turkey living in the F.R.G. and would have to take into account the cultural and educational conditions of the Turkish minority. In general, if no Turkish-speaking specialist is available to explain the diagnostic possibilities, probably pre-pregnancy or early pregnancy testing would be the most appropriate way of reaching the couples at risk in the German medical system.

Adolescent↗
PubMedDate not supplied

[A rare combination of partial trisomy 9 with pulmonary atresia].

We report of an previously unpublished combination of partial trisomy 9 and a membranous pulmonary atresia with a large conotruncal ventricular septal defect. The dystrophic female, term newborn presented after delivery with microcephaly, prominent nose and several other facial and skeletal deformities. The echocardiography and angiography showed a membranous pulmonary atresia with ventricular septal defect. Chromosomal analysis revealed a partial trisomy of the short arm with parts of the long arm of chromosome 9 and a small part of the long arm of chromosome 4. A surgical repair of the heart defect was not performed by the known high risk of severe mental retardation of partial trisomy 9. The child died at the age of six months.

Abnormalities, Multiple↗
PubMedDate not supplied

Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sorting.

PROBLEM: The need for an inexpensive and reproducible technique for noninvasive prenatal diagnosis by fetal cell isolation from maternal blood. METHOD: For enrichment of fetal cells we used a combination of triple density gradient and magnetic sorting (MACS) of (anti-CD71) transferrin receptor antibody labeled cells followed by fluorescence in situ hybridization (FISH) with chromosome-specific DNA probes for detection of fetal aneuploidies. We identified 15 cases of fetal trisomy (five cases with a trisomy 18 and ten cases with a trisomy 21) with subsequent chromosome-specific FISH. RESULTS: We found in all of the aneuploid pregnancies that the percentage of cells with three hybridization signals did not overlap with those of normal controls independent from gestational ages and previous invasive procedures. CONCLUSIONS: Our new approach for noninvasive prenatal diagnosis has proven to be reliable in this first series.

Blood Cells↗
PubMedDate not supplied

Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.

Partial trisomy 1q is rare and mostly the result of an abnormal segregation of parental translocation chromosomes and their homologues. Only 31 cases have been described with pure partial trisomy 1q. In the fetus presented, chromosome analysis after amniocentesis had shown an unbalanced male karyotype with an aberrant chromosome 1. A de novo terminal duplication of the long arm was suspected but could not be verified by FISH in 1994. Five years after fetal death, retrospective identification of the additional material in 1q could finally be achieved by comparative genomic hybridization (CGH) using DNA extracted from formalin-fixed and paraffin-embedded fetal tissues. A direct duplication dir dup (1)(pter-->q44::q32.1-->qter) was found. Only 6 other individuals with duplication of this segment have been described so far. Comparative delineation of a dup1q phenotype with regard to size and origin of the dup (1q) segment evidenced that large duplications as well as proximal and interstitial duplications coincide with more severe visceral malformations, severe mental retar- dation and a short life span. Terminal duplications (1q32-->qter) concur with less severe malformations and longer periods of survival, but marked mental retardation. With small terminal duplications (1q42-->qter) dysmorphisms are usually mild and intellectual performance is mostly in the normal range.

Adult↗
PubMedDate not supplied

[Psychological adjustment to abortion for genetic indications in the 2d trimester].

Based on a questionnaire analysis of 41 women after termination of pregnancy for genetic indications in the second trimester of pregnancy the predominant feelings in the different stages of the coping process were identified. Whereas during the hospitalization period helplessness and anger were the predominant emotions, later sadness prevailed. At the time of the abortion itself loneliness was one of the main complaints. This situation could probably be improved if more often the partners were present during the period of abortion induction. About 54% of the women indicated that a prenatal diagnosis in the first trimester would have improved their coping problems. It remains to be seen whether CVS in the first trimester will be of benefit in this respect. Even though there are methodological limitations in a retrospective questionnaire study our results clearly underline the necessity of special psychologic support which can probably partly be provided by a psychologist who is available in our prenatal program.

Abortion, Eugenic↗