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A T Midro

Publications and source records attributed to A T Midro.

45 records · Page 3Linked to original sources
PubMed1988

Familial occurrence of isodicentric X chromosomes with different breakpoints.

We report two cases of an idic (X) chromosome found in relatives with Turner's syndrome. A 21-year-old female revealed a non-mosaic form of X isochromosome of the long arms with two C-band regions, i.e. dic(X)(qter----cen----p11::p11----cen----qter). Her 46-year-old aunt with Turner's syndrome had an X chromosome with long arm breakpoints at site q21 and chromosomal mosaicism, i.e. 45,X/46,X, dic(X)(pter----q21::q21----pter)(78/22). The relative rarity of reports about familial Turner's syndrome with structural abnormality may suggest a coincidence. However, it is difficult to exclude familial predisposition to X isochromosome formation in this family.

Adult↗
PubMed1987

XYY syndrome and acute myeloblastic leukemia.

A 69-year-old man with hypogonadism was found to have a 47,XYY karyotype. Clinical and laboratory data revealed acute nonlymphocytic leukemia (ANLL) of the M2 type. The association between the XYY and ANLL-M2 is most likely accidental coincidence.

Aged↗
PubMedDate not supplied

New perspectives and hope for cure-reflecting recent genetic developments in cystic fibrosis.

The isolation of cystic fibrosis gene at the CF locus assigned to the long arm of chromosome 7 band q31 and definition of its protein product named CFTR (cystic fibrosis transmembrane conductance regulator) permits to understand the basic defect in this inherited disorder known as cystic fibrosis (CF) or mucoviscidosis. A variety of mutations of CF gene was revealed and the most common, a deletion of the 3 nucleotides that encode phenylalanine (Delta F508) with the variable incidence among the different ethnic groups of CF patients was delineated. CF is a variable disease and genetic testing can be useful to explain this variation but to date the phenotype-genotype correlation is not clarified. Polymerase chain reaction (PCR) amplification is used to test CF gene in CF patients and their families but is not sufficiently genetically informative to population screening for carrier detections. Recently identified glycoprotein encoded by CF gene is responsible for the regulation of the membrane chloride channel of epithelial cells and the experiments used retro-virus-mediated gene transfer demonstrated complementation CF defect in vitro. The way for gene therapy in this disease is open. An alternative approach to use the germ line cells to CF gene therapy is prerequisite of the development of the preimplantation preconception genetic CF diagnosis. The researchers managed already to express human CFTR gene in vivo in cotton rats lungs through the viral delivery system. It will be generalized into the airways of CF patients with hope that normal CFTR will reverse the physiological defect in CF cells.

Cystic Fibrosis↗
PubMedDate not supplied

[Familial occurrence of congenital aniridia].

Aniridia and coloboma iridis are congenital defects which are inherited in common as an autosomal dominant trait. The study presents an analysis of 15 pedigrees of 15 patients from 3 families; it confirms the hereditary character of aniridia and iris coloboma and indicates the variability of the genetic expression.

Adult↗
PubMedDate not supplied

[Risk of reproduction disorders in carriers of mutual chromosomal translocations, and methods for detection of translocation carriers].

It is believed that the method of detection of chromosomal translocation carrier state may be a prognostic factor for the risk of giving birth to an ill child with unbalanced karyotype. For verification of this view 30 families were studied which had balanced mutual translocations identified by means of GTG banding technique in the Genetics Laboratory of the Child's Health Centre. In each family the risk was estimated of the development of an undifferentiated karyotype in live born offspring and fetuses in the 2nd trimester of pregnancy using a method evolved by Stengel--Rutkowski et al. (1988). In the group of families identified by examination of a child with abnormalities the individual risk of development of an undifferentiated karyotype in a newborn was from 0.45% to 19.78% and in a fetus it was 4.5% to 46%. In the group of families identified by spontaneous abortion the risk in the newborns was from 0 to 7% and in the fetuses in 2nd trimester it was 0 to 35%, while in the families undergoing cytogenetic examinations for indications other than reproduction disturbances the risk of an unbalanced karyotype in the newborns was from 0 to 23%, and in the fetuses from 0 to 34%. Since in each group of families high-risk translocations were found, the used methods of preliminary estimation of the risk based on the used ways of family identification are open to reservations.

Chromosome Banding↗
PubMedDate not supplied

[Epilepsy in a child with ring chromosome 14].

A case of epilepsy in a child with ring chromosome 14 is presented. The typical features for the ring chromosome 14 syndrome in 5 years old girl i.e. psychomotor retardation, microcephaly, generalized hypotonia and some dysmorphism were found. Photoanthropometric method by Stengel-Rutkowski et al. for better estimate of dysmorphic pattern was used. It made possible to ascribe the features to partial deletion of the long arm segment of chromosome 14. Computer tomography revealed brain atrophy.

Brain↗