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H Stańczak

Publications and source records attributed to H Stańczak.

12 recordsLinked to original sources
PubMed1997

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as well as karyotype-phenotype correlation are discussed.

Adult↗
PubMed1996

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

Results of cytogenetic studies, performed in a group of 201 institutionalized mentally retarded males, are presented. At least two cytogenetic methods for eliciting the Xq27.3 fragile site, recommended by the Fourth International Workshop on the Fra X Syndrome were used. A subgroup of 67 out of 201 studied males was also examined using molecular methods. In 6 (2.9%) males fra X syndrome was diagnosed. All cytogenetic positive results were confirmed by molecular analysis. Five patients had full expansion CGG repeats and one had both premutation and full mutation. Postulated frequency of fra X syndrome in Polish population being 0.2-0.4/1,000 males seems to be lower than it could be expected on the basis of previous literature data.

Fragile X Syndrome↗
PubMed1996

[Use of molecular cytogenetic techniques for establishing the origin of chromosome markers in patients with Turner phenotype].

Results of marker chromosome identification using the FISH technique are presented. The origin of markers was determined in 11 patients with mosaic karyotype 45,X/46,X,mar. Using probes specific for X and Y chromosomes, we demonstrated that in 8 patients the marker originated from the X chromosome and in 3 cases it was an abnormal Y chromosome. These 3 patients were identified as at high risk for developing gonadoblastoma and prophylactic gonadectomy was performed. Results of these studies show that the FISH technique is a very useful method in the diagnosis of sex chromosome abnormalities.

Child↗
PubMed1996

[Marker chromosomes as a product of familial translocation (11;22) identified with molecular cytogenetic methods].

A reciprocal constitutive 11;22 translocation is the most frequent, non Robertsonian translocation in man. We describe a case of partial trisomy 11q and 22q in a child with facial dysmorphy, hypotonia, heart failure, cryptorchism and psychomotor retardation. A marker chromosome was found in this child. Chromosome analysis with the fluorescence in situ hybridization, FISH technique showed that this marker chromosome was the product of 3:1 mejotic segregation of maternal (11;22) balanced translocation. Routine cytogenetic problems with identification of marker chromosomes can now successfully be solved with the FISH technique. The presented case clearly demonstrates the diagnostic usefulness of this newest method of cytogenetic analysis.

Abnormalities, Multiple↗
PubMed1996

[Partial trisomy of chromosome 13--diagnosis confirmed with the FISH in situ hybridization technique].

The case of a 1.5 year old girl with clinical traits of craniofacial dysmorphy, hypotonia, polydactyly and moderate mental retardation is presented. Routine cytogenetic study revealed the presence of a large additional chromosomal fragment associated with the nucleolus organizing region on one of chromosomes 13. The banding pattern suggested the additional fragment was a part of the long arm of this chromosome. The set of clinical symptoms was only partly consistent with those characteristic for trisomy 13q2 and 3. Application of the FISH technique with a chromosome 13 specific library enabled final confirmation of the origin of the extra chromosome fragment from the long arm of chromosome 13. The presented case proves the usefulness of the FISH technique for the diagnosis of chromosomal aberrations and for adequate clinical interpretation of cytogenetic results.

Abnormalities, Multiple↗
PubMed1995

[Cytogenetic studies in clinical diagnosis --analysis of 1611 examination results].

An analysis of the frequency and type of chromosome aberrations found in 1611 cytogenetic studies has been done in relation to the clinical indications. The most frequent reason for referral was: MCM/MR syndrome (15.4% cases), suspicion of sex chromosome abnormality (13.1%), Down syndrome (11.2%) and reproductive wastage (10.6%). The incidence of abnormal karyotypes in these groups of patients was 10.1%, 24.2%, 87.9% and 9.3% per couple, respectively. The lowest percentage of chromosome aberrations was found among patients with nonspecific mental retardation (2.2%) and in the families who lost a baby with MCM Syndrome (3.3% per couple). On the whole, abnormal karyotype was found in 364 patients (22.6%). Among 62 families identified by the affected child with, structural chromosome aberration in 24 families (38.7%) the abnormality was familial in the origin.

Adult↗
PubMed1995

[Reliability of cytogenetic and clinical diagnostic studies. Results of analyzing 1621 pre- and postnatal studies].

Systematic quality assessment of cytogenetic studies is very important for maintaining high standards of diagnostic testing and adequate genetic service. Results of quality assessment for 714 pre- and 907 postnatal cytogenetic studies performed in the Genetic Department of the National Research Institute of Mother and Child are presented. The assessment included: reporting time, quality of chromosome preparations, reliability and success rate of the studies. Mean reporting time for blood samples was 20 days and for amniotic fluid 23 days. Chromosome banding quality was adequate to reasons for referral in 86.9% of blood samples and in 100% of amniotic fluids. The success rate for pre- and postnatal studies was 99.4 and 96.6%, respectively. The need to develop a quality assessment scheme for clinical cytogenetics in Poland is discussed.

Diagnostic Services↗
PubMed1993

Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.

A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to hypomelanosis of Ito. The karyotype is 46,XX, -18, + del(18)(p11.23-->pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18). The patient displays some clinical features of monosomy 18p and a few signs of trisomy 18q. Our case illustrates a non-random association of chromosomal mosaicism with abnormal skin pigmentation.

Abnormalities, Multiple↗
PubMedDate not supplied

[Chronic eosinophilic leukemia].

In this research one case of chronic myelogenous eosinophilic leukemia (pbe) transformed into myeloblastic crisis in male patient aged 24, efficiently treated chemotherapy with following performing allogenic bone marrow transplantation was represented. The patients was admitted to the Department of Hematology with the cause of increased leucocytosis (up to 19.9 x 10(9)/l), eosinophilia (up to 15.3 x 10(9)/l), enlarged percentage of eosinophillic granulocytes in bone marrow, splenomegaly, anaemia and thrombocytopenia. Cytogenetic tests did not reveal any chromosomal disturbances, and PCR test did not detect bcr/abl rearanzation. After 7 monthly period of chronic phase of disease there was appeared symptoms of blastic acceleration myelogenous disease i.e. enlargement of splenomegaly, intensification of anaemia and thrombocytopenia, very fast increasing leucocytosis in short time together with presence of myeloblasts in blood and bone marrow smear tests. Blastic acceleration pbe with eosinophils dominant in bone marrow was confirmed by flow cytometry. Induction chemotherapy according to schedule HAR (Hydroxyurea--H, Arabinoside Cytosine--A, Doxorubicin--R), consolidation and irradiation of spleen allowed to receive complete remission. The patients was undergone allogenic bone marrow transplantation (allo-BMT) from related donor (younger brother). The follow-up with the period 18 months after allo-BMT has not revealed the relapse of disease.

Adult↗
PubMedDate not supplied

[Prenatal diagnosis and characteristics of chromosome aberrations in families with genetic risk].

Characteristics of the chromosomal aberrations diagnosed in 959 prenatal tests in the II trimester of pregnancy is presented. Chromosomal aberrations were diagnosed in 33 tests (3.4%). Twenty one out of these aberrations (2.2%) were of labile character. Six aberrations resulted from the parental segregation, translocation or chromosomal inversion. In 12 cases fetus inherited stable aberration from one of parents. It amounted to 1.2% of all tested cases. Chromosomal aberrations were diagnosed in 2.7% cases tested due to the risk related to the mother's age. Half of them was trisomy of chromosome 21. Chromosomal aneuploidy in the progeny of families with a child with the same abnormality was diagnosed in 1.6% of cases. Chromosomal mosaicism was diagnosed in 2.2% of cases including 0.2% of cases with true mosaicism and 1.98% of cases with pseudomosaicism. Incidence and type of the diagnosed chromosomal aberrations coincided with foreseen aberrations for each group of the genetic risk.

Adult↗
PubMedDate not supplied

[Prenatal diagnosis of chromosomal aberrations in the second trimester of pregnancy--analysis of problems and diagnostic difficulties].

Laboratory problems and diagnostic difficulties are analysed in 1135 prenatal cytogenetic examinations of amniotic fluid cells in the Genetics Laboratory of the Mother and Child Institute. The effectiveness and the reliability of the method for the purposes of prenatal diagnosis of chromosomal aberrations were evaluated. They were comparable to those reported from other similar centres in the world.

Amniocentesis↗