A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up.

A record of a natural history of a long-term case study devoted to monosomy 5p (Cat-cry/Cri-du-chat) syndrome has been described rarely. Knowledge on the range of the changes in phenotype attributable to advancing age can be useful in clinical diagnosis of monosomy 5p at the different developmental stages, including adolescence, as well in prognosis for genetic counseling. In this case a detailed analysis of the morphologic phenotype in a girl with del(5)(p13.3) observed from 4 months to 18 years of age is reported. The comparative analysis of the girl's phenotype in different developmental stages has revealed that microcephaly, flat occipital region, face asymmetry, wide spaced palpebral fissures, epicanthic folds, small mouth fissure, thin mucous lip, small and low set ears and short IV metacarpals has not changed with advancing age. However, facial asymmetry was more evident, frontal tubers were less prominent, nasal root and back became prominent nasal back became elongated, the subnasal region was shorter and marked malocclusion appeared.

[Sex chromosome aberrations in patients with menstruation disorders]. / Les aberrations des chromosomes sexuels chez les patientes présentant des troubles de la menstruation.

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.

[Sister chromatid exchange in lymphocytes of drivers]. / Wymiany chromatyd siostrzanych w limfocytach u kierowców.

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.

[Spontaneous menstruation in patients with Turner syndrome in our observations]. / Samoistne miesiaczkowanie u pacjentek z zespolem Turnera--wlasne obserwacje.

OBJECTIVES: Patients with Turner syndrome (TS) may present a wide spectrum of gonadal function including spontaneous menstruation and fertility. DESIGN: The aim of our study was to present the patients with Turner syndrome (TS) with spontaneous menstruations considering specific karyotype and X-inactivation processes. MATERIALS AND METHODS: 5 women from group of 55 patients in age from 15 to 38 years with diagnosis of TS and gonadal function were found. Clinical analysis included the evaluation of spontaneous pubertal development and hormones levels. Cytogenetic analysis was performed on peripheral blood samples using GTG banding technique. X inactivation studies were done by dynamic RBG technique. RESULTS: In two patients with mosaic karyotype and predominant 46,XX line two pregnancies were observed. They had regular menses and normal sexual development. In one patient (karyotype: 45,X[2]/46,XX[98]) spontaneous abortions and premature birth were present. Second patient was (46,XX[245]/46,X,r(X)(p22q26)[5]) in pregnancy in this time. Another three patients menstruated irregularly. The menarche appeared later. The karyotypes were: 46,X,del(X)(p11.3) in two patients and 45,X[64]46,X,r(X) (p22q26)[18]/46,XX[4] in one. CONCLUSIONS: We conclude that spontaneous menstruations and possibility of pregnancy depend on specific karyotype in patients with TS.

[Turner syndrome in a girl with marker chromosome in karyotype]. / Zespól Turnera u dziewczynki z chromosomem markerowym w kariotypie.

OBJECTIVES: There are suggestion, that Turner syndrome (TS) patients with mosaic karyotype for a Y-DNA-containing cell line are at risk of Y-induced gonadoblastoma. The TS patients in whom some or all cells contain a marker chromosome of unknown origin and those in whom there is clitoromegaly or other evident virillisation should be tested by FISH or PCR techniques. DESIGN: The aim of our study to present a TS girl with mosaic karyotype and marker chromosome, which origin from X chromosome was detected by FISH method. MATERIAL AND METHODS: 5-years old girl in whom TS was established. Clinical analysis included the full dysmorphic and clinical phenotype of TS. Chromosome analysis was performed on peripheral blood samples using routine cytogenetic methods and FISH technique. RESULTS: Clinical examination of girl showed many typical signs of TS besides of normal weight and length at birth and not typical for TS patients heart defect. First routine chromosome analysis, at age of 6 month, showed only 45,X cell line, Second study revealed mosaic karyotype with marker chromosome. FISH analysis for interphase nuclei and metaphase chromosomes using X centromere probe explained origin of marker from X chromosome. The karyotype was 45,X[155]/46,X,+mar[8].fish mar(X)(DXZ1+). CONCLUSION: Presence of marker chromosome in karyotype of patient with TS may modify their phenotype and it is a indication for molecular examination by FISH technique.

[Pedigree analysis of childless families of reciprocal chromosome translocation carriers]. / Analiza rodowodowa bezdzietnych rodzin obciazonych nosicielstwem translokacji chromosomowych wzajemnych.

OBJECTIVES: Pedigree analysis of childless families of unique reciprocal chromosome translocation (RCT) carriers may be useful for clinical prognosis and genetic counselling. MATERIAL AND METHODS: The group 13 childless families of RCT carriers were detected. Cytogenetic analysis of RCT was performed on blood samples using GTG and RBG banding technique. RESULTS: Thirteen pedigrees were constructed on basis of 64 cytogenetic results and anamnestic data of 62 spontaneous abortions and 7 stillbirths. Familial RCT were found in ten families. In addition fourteen relatives of the RCT carriers have had healthy children. Further observations showed other three healthy children among progeny of eight families. Low risk for unbalanced progeny at birth were estimate in most families. CONCLUSION: Childless families of RCT carriers have possibility to have healthy offsprings. Spontaneous abortions are result of RCT carrierstrip.

[Clinical examinations, chromosomal and molecular DNA in patients with Swyer syndrome]. / Badanie kliniczne, chromosomowe i molekularne DNA u pacjentek z zespolem swyera.

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.

[Nephrolithiasis in a HIV infected patient treated with indinavir]. / Kamica nerkowa u zakazonego HIV leczonego indinavinem.

Protease inhibitors together with reverse transcriptase inhibitors are used in antiretroviral treatment. Indinavir, precipitating in renal tubules, quite often can cause nephrolithiasis. The case of a HIV infected patient with renal colic probably caused by indinavir, diagnostic and therapeutic options in such cases are described in the paper.

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

PURPOSE: Genetic counseling of carriers with individual chromosome translocation requires information on how balanced reciprocal chromosome translocations (RCT) will segregate, what possible form of unbalanced embryo/fetus/child can occur, and the survival rates that have been observed in the particular families. We collected new empirical data and evaluated pedigrees of RCT carriers involving 9p in order to improve risk figures. MATERIAL AND METHODS: Empirical data on 241 pregnancies of 70 carriers were collected from 32 pedigrees of carriers of RCT at risk for a single 9p segment imbalance (RCT9p) from the literature and unpublished data. The probability rates of particular types of pathology have been calculated according to the method of Stengel-Rutkowski and Stene. Cytogenetic interpretation was based on GTG, RBG and FISH techniques. RESULTS: The probability rate for unbalanced offspring at birth for the whole group of pedigrees was calculated as 17.8+/-3% (33/185) (high risk). Considering the size of the imbalanced segment of 9p, the probability rates for RCT carriers with a breakpoint position at 9p22 at 9p13 and at 9p11.2 were estimated separately, and were found as 21.2+/-4.4% (18/85), 25+/-8.8% (6/24) and 11.8+/-3.7% (9/76), respectively. For unbalanced fetuses at 2nd prenatal diagnosis, we found the risk value as 57.9+/-11.3 % (11/19). The risk value for unkaryotyped stillbirths/early deaths of newborns and miscarriages were 5.4+/-1.7% (10/185) (medium risk) and 13+/-2.8% (rate 24/185) (high risk) respectively. CONCLUSIONS: Our results showed that the recurrence probability rates are different for particular categories of unfavorable pregnancy outcomes. How much they are dependent on the size of 9p chromosome segments taking part in the imbalance needs further studies based on a larger number of observations.

Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability.

PURPOSE: The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling. In order to obtain the recurrence probability rates for the particular forms of unfavourable pregnancy we collected the empirical data and evaluated pedigrees of reciprocal chromosome translocations (RCT) carriers involving 4p. Results were applied to family of carrier of t(4;11)(p16.1;q23.3) ascertained by four miscarriages, in which latter the girl with WHS was born. MATERIAL AND METHODS: Total empirical data about 170 pregnancies of 46 carriers were collected from 25 pedigrees RCT at risk for single segment imbalance. Classification was based mostly on cytogenetic methods. The probability rates of particular type of pathology related to total number of pregnancies after ascertainment correction have been calculated according to the method of Stengel-Rutkowski and Stene. RESULTS: The risk figures for unbalanced offspring after 2:2 disjunction and adjacent-1 segregation for whole group of pedigrees were calculated as 15.2 +/- 3.5% (16/105), for unbalanced fetuses at second trimester of prenatal diagnosis as 50 +/- 13.4% (7/14), for miscarriages about 19 +/- 3.8% (20/105) and for stillbirths/early death as 15.2 +/- 3.5% (16/105). The higher probability rate for RCT carriers at risk for distal 4p--shorter segment imbalance (28.6 +/- 12%, 4/14) in comparison to the rate for proximal (medium) one as 15.4 +/- 4.5% (10/65) and to more proximal (longer) one as 7.7 +/- 5.2% (2/26) were found. CONCLUSIONS: Our results confirm that the recurrence probability rates are different for particular categories of unfavourable pregnancy outcomes and dependent on size and genetic content of unbalanced 4p segments.

[X-inactivation studies in women with structural X chromosome aberrations]. / Ocena inaktywacji chromosomu X ze zmianami strukturalnymi u kobiet.

The article presents influence of X inactivation patterns on phenotype of patients with structural X chromosome aberrations.

[Genetic basis for Rett disease]. / Genetyczne podloze choroby Retta.

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.

Immunological response in HIV-positive patients vaccinated against tick-borne encephalitis.

BACKGROUND: Vaccination against infectious diseases is a recommended preventive measure in patients with impaired immunity. The aim of the study was to estimate the immunogenicity of the vaccine against tick-borne encephalitis (TBE) in HIV-infected patients and to determine its safety for this group. PATIENTS AND METHODS: The TBE vaccine FSME-IMMUN-inject was tested on 29 HIV-positive patients and the response compared to that of 40 healthy controls. The vaccination protocol for the HIV-positive group was modified by the addition of a fourth dose according to a 0/1/2/9-month schedule. RESULTS: No serious adverse reactions were observed in patients with deficient immunity. A better response was obtained in HIV-infected patients with CD4 counts >or= 500/microl (55% of the patients had levels of IgG antibody > 126 VIEU/microl) than in those with CD4 counts of 200-499/microl (40%). However, the difference did not reach significance. 85% of healthy controls achieved protective antibody titers after a full course of vaccination. CONCLUSION: The correlation between post-vaccine seroconversion and CD4 lymphocyte count showed that the FSME-IMMUN-inject vaccine can be considered to be a CD4 cell-independent vaccine. The examinations carried out 1 year after the completed vaccination protocol showed maintenance of the anti-TBE response acquired after the third vaccination in healthy subjects and in HIV-infected patients.

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.

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.