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A T Midro

Publications and source records attributed to A T Midro.

At least 37 records · Page 2Linked to original sources
PubMed1997

Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother.

X-inactivation mosaicism has been proposed to explain the origin of Rett syndrome. We present the results of the cytogenetic analysis, including RBG dynamic replication pattern, in a girl with Rett syndrome. The late replicating X chromosome (LRX) showed the earlier replication of subband Xp21.2 in 36% of analysed cells. Unexpectedly the maternal karyotype 47,XXX was found. Replication timing of both maternal LRX chromosomes was normal. The critical region of Xp essential for RS is proposed.

Adult↗
PubMed1997

[Metabolic disorders in patients with primary carbohydrate deficient glycoprotein syndrome].

The carbohydrate-deficient glycoprotein syndromes are multisystemic inherited diseases with severe nervous system involvement. There is indirect evidence for deficiency of phosphomannomutase in type I and direct evidence for a deficiency of N-acetylglucosaminyltransferase II in type II. The disease is characterized by carbohydrate deficiencies of a number glycoproteins, including serum sialotransferrins.

Congenital Disorders of Glycosylation↗
PubMed1997

Floating Harbor syndrome. Case report and further syndrome delineation.

Floating Harbor syndrome was diagnosed in a 9 years old girl on the basis of short stature, delayed bone age, mild mental retardation, speech problems and specific craniofacial features. A detailed phenotype description is given and evaluated together with 18 other published case reports according to the concept of the Munich Dysmorphology Database (Stengel-Rutkowski et al., 1996) with the aim to delineate the spectrum of clinical and anthropological features.

Abnormalities, Multiple↗
PubMed1997

[Genetic basis for Rett disease].

Current knowledge concerning the genetic background of Rett syndrome (RS) is reviewed. RS is a progressive neurological disorder causing severe mental retardation which appears to be limited to the female sex. The genetic defect responsible for the illness is not known and several different causative mechanisms i.e. X-linked dominant mutation, the two step mutation theory, mitochondrial DNA mutation, gonadal mosaicism, alternation in the X inactivation process, uniparental disomy of the X chromosome are reviewed.

Chromosome Aberrations↗
PubMed1996

[Jaeken's (CDG) syndrome in two sisters].

Jaeken's syndrome or the carbohydrate-deficient glycoprotein (CDG) syndrome, is a newly recognized metabolic syndrome with poor weight gain in children, and multisystematic abnormalities, mainly due to defective carbohydrate entities in many glycoproteins, leading to neurologic dysfunction. Using the standardized method of phenotype evaluation with computer assistance according to the Munich Dysmorphologic Database, two sisters with CDGs were examined to decide if this metabolic entity contains dysmorphic features characterising dysmorphic syndromes. Diagnosis was based on clinical symptomatology and transferrin isoforms which showed tetrasialotransferrin deficiency and increased disialotransferrin in serum. Dysmorphic studies can be helpful in recognition of this syndrome, now described for the first time in Poland.

Adolescent↗
PubMed1996

[Familial translocation t (9;16) in a patient with irregular menstrual cycles].

In this report we present a family with identified carriers of unique reciprocal translocation t (9; 16) (q31; q13) detected through karyotyping of the patient with irregularity of menstrual cycles. Genetic risk for birth of a child with congenital anomalies was estimated as low (0.6%). However, risk for abortion was high. We suggest introducing cytogenetic studies in such cases.

Abortion, Spontaneous↗
PubMed1995

[Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].

We present a case of Kearns-Sayre syndrome diagnosed in a boy with retinitis pigmentosa ophthalmoplegia, ancephalomyopathy and cardiomyopathy. A single large-scale mtDNA deletion at very low level in the blood sample using Southern blot analyses and multiprimer DNA amplification was detected. This case demonstrates that retinitis pigmentosa may be due to genetic mitochondrial disturbances.

Adolescent↗
PubMed1995

[Syndrome of congenital malformations and dysmorphic features in a newborn with partial trisomy 16q due to maternal translocation t(9;16)(p24;q13)].

A newborn with multiple congenital malformations and a pattern of dysmorphic features (microcephaly, uneven skull surface, exophthalmos, periorbital oedema, clefting of primary and secondary palates, camptodactylia of hands and feet, patent arterial duct, thoracic and spinal malformations, ambiguous external genitals) is described. Partial trisomy of chromosome 16q due to maternal reciprocal translocation t(9;16)(p24;q13) was detected. The risk for the next pregnancy was estimated to be low (below 2.6%).

Abnormalities, Multiple↗
PubMed1995

[Floating-Harbor syndrome in a girl with somatic asymmetry].

Floating-Harbor syndrome, a genetic disorder of unknown etiology, was diagnosed in a 9-year-old girl with delayed morphologic, bone and dental age, lateral asymmetry of the body, triangular face, hypotelorism, broad palpepral fissures, long eye-lashes, narrow jaw, retrogenia, a defect of phonemic audition and speech delay with poor articulation. Similarity between Floating-Harbor syndrome and Silver-Russel syndrome is discussed.

Abnormalities, Multiple↗
PubMed1993

[Gene therapy perspectives in cystic fibrosis].

Cystic fibrosis (CF) is a frequent autosomal recessive genetic disease. The isolation of the gene at the CF locus assigned to the long arm of chromosome 7 band q 31 and defining description of its protein named CFTR (cystic fibrosis transmembrane conductance regulator) promoted understanding the basic biochemical defect. Brief review of relevant literature demonstrates that glycoprotein CFTR is a chloride channel and is activated by a combination of phosphorylation by protein kinase A and binding of ATP. Most common mutation of CF gene, a deletion of the three nucleotides encoding phenylalanine (Delta F508) results in disturbance of chloride transport through membrane of epithelial cells involved in pathomechanism of CF. The way for gene therapy in CF is open, however therapeutic progress is noted on both pharmacologic arena and on the gene cure front. Recombinant vectors utilizing the adenovirus system with high efficiency of CFTR gene transfer to airway epithelium demonstrated in a rat model look promising. The use of retroviruses for CFTR transfer is also advanced mode of somatic gene therapy. An alternative approach suggesting the use of germ line cells is prerequisite of the development of the preimplantation/preconception genetic CF diagnosis. A number of safety and efficacy issues have to be addressed for all approaches before human trials can be implemented.

Animals↗
PubMed1993

[Clinical examinations, chromosomal and molecular DNA in patients with Swyer syndrome].

Two girls with Swyer syndrome (SS) were described. Diagnosis was established according to clinical data and ultrasound, laparoscope, histopathological, hormonal and cytogenetical examinations. One presents diagnostic possibilities followed advanced methods in genetics. The GTG and RBG high resolution bounding technique and replication analysis of short arms (Xp and Yp) were employed. Normal structure of end segments of X and Y chromosomes was mentioned. Molecular DNA analysis by polymerase chain reaction (PCR) did not find any mutation in SRY gene. Normal structure of this gene does not exclude possibility of SS existence. Our data implicates on the other mechanism of these disturbances.

Adolescent↗
PubMed1992

Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

The risk estimates for individual carriers of ten different familial reciprocal translocations detected among 500 couples with reproductive failures are presented. These were established by application of the empirical data analysed by Stengel-Rutkowski et al. (1988) and the guidelines given in Stene & Stengel-Rutkowski (1988). Different risks were estimated for unbalanced offspring at birth or at second trimester prenatal diagnosis for abortions, or stillbirths/early deaths. These risk estimates varied considerably from translocation to translocation. Carriers of five translocations had risks for offspring with single-segment imbalances. The birth risk figures ranged from 0.1% to 13.8%. Carriers of five other translocations had risks for double-segment imbalances with birth risks ranging from 0% to 3.2%. The estimated risk figures were independent of the method of ascertainment. Among the parents of the index cases we found nine maternal carriers and only one paternal carrier. This presentation illustrates the need for individual risk counselling of each carrier with reciprocal translocation regarding further family planning.

Abortion, Spontaneous↗
PubMed1992

[TAR syndrome (congenital thrombocytopenia and aplasia of the radial bones) in a 5-months-old boy].

A boy aged 5 months had the TAR syndrome (thrombocytopenia and aplasia of radial bones) of autosomal recessive inheritance. Bilateral reduction of the length of the upper extremities included both forearm bones and humerus, so that the shoulder girdle was connected directly to the hand, with all fingers and thumb normally shaped. These skeletal anomalies were associated with thrombocytopenia. Various other abnormalities were present, with the most controversial anomaly being bilateral cleft of the lip and secondary palate. It may be an accidental coexistence of abnormalities or may suggest a common mechanism of the development of the TAR syndrome, Roberts syndrome and SC-phocomelia belonging to hereditary reduction of the extremities with identical mode of inheritance.

Abnormalities, Multiple↗
PubMed1992

[Genetic counseling in the case of carrier state with reciprocal chromosome translocations].

The principles are presented of genetic counselling for families with carrier state of reciprocal chromosome translocations (RCT). RCTs are the risk factor for the occurrence of reproduction disturbances, such as infertility, spontaneous abortion, congenital anomalies in the offsprings, and the degree of risk depends to a large extent on which chromosome segments are in the state of imbalance in the offsprings, due to various mechanisms of abnormal meiotic segregation. The uniqueness of chromosome translocations with respect to the type of chromosomes involved in translocations, and the location of breaking sites is the reason for the necessity of construing large pedigrees for the evaluation of the degree of risk. The newest Stene and Stengel-Rutkowski model makes possible the combination of smaller pedigrees in translocation groups of the so-called single risk of imbalance and determination of the individual risk of birth of children with anomalies. A number of psychological determinants are important for the possibility of genetic investigations in the affected families, and the decision about procreation may be influenced by a number of determinants other than the result of genetic counsel.

Congenital Abnormalities↗
PubMed1992

Different risks in two familial translocations t(9;12) with similar breakpoints.

The risk of offspring with unbalanced karyotypes born to carriers of reciprocal chromosomal translocation (RCT) is important to evaluate for further family planning and prenatal diagnosis. The authors describe two families with carriers of similar RCT concerning breakpoint positions and discuss the different individual risks for abnormal progeny. These translocations were studied by GTG, RBG and CBG banding. They have the same breakpoint on 9p, i.e. 9p22, and a different one on 12p, i.e. terminal (pter----p13) and intermediate (p11.2), respectively. The risk value of 27% for family 1 was obtained directly from the large enough pedigree (high risk) a risk value of about 5% was estimated for family 2, according to the guidelines of Stene and Stengel-Rutkowski (1988). The data show that similar translocations with only slight differences in the breakpoints position have different risks for unbalanced progeny. Results of these empiric findings may be used directly in genetic counselling of a family with RCT leading to a single imbalance of the same segment.

Adolescent↗
PubMed1990

[Sex chromosome aberrations in patients with menstruation disorders].

We studied 150 women with primary/secondary amenorrhea and/or oligomenorrhea; in 61 cases we found an abnormal karyotype (i.e. 40.7%): 51 cases in the first group of 110 patients with amenorrhea (i.e. 46%) and 10 cases in the second group of 40 patients with oligomenorrhea and/or secondary amenorrhea (i.e. 25%). The chromosome aberrations we found consisted in X aneuploidy, male karyotype and the different structural changes as mono- and dicentric X isochromosomes, dicentric, ring, deleted or inverted X chromosomes. Our results suggest a cytogenetic examination in patients with primary amenorrhea as well as in patients with oligomenorrhea and/or amenorrhea secundaria.

Adolescent↗
PubMed1990

[Sister chromatid exchange in lymphocytes of drivers].

The frequencies of sister chromatid exchanges (SCE) in the group of 18 drivers were studied. The habit of cigarette smoking was considered. Mean values of SCE/metaphase between the group of drivers and the reference group and in the comparison with nonsmoking and smoking drivers did not show significant differences. Several cells with extremely high values of SCE (19-25) were observed in the group of smoking drivers.

Adult↗