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A Baxová

Publications and source records attributed to A Baxová.

11 recordsLinked to original sources
PubMed2004

[Case reports of patients with a marker chromosome].

Small, usually supernumerary chromosomes, denoted as marker chromosomes or markers, can be represented by various phenotypic expression, that depends on their origin and extent. Our article presents results of molecular cytogenetic analysis (FISH) of 34 patients with identified marker chromosome. In 21 cases a marker derived from acrocentric chromosome was identified, in 9 cases markers of gonosomal origin [der(X), der(Y)], and in 4 patients markers of some other chromosomes (5, 17, 18) were proved. The most frequent marker was that originating from chromosome 15 (8 cases). Two patients with different phenotype, markedly influenced by the extent of pseudoizodicentric chromosome 15 are described. In accordance with hitherto presented data, presence of supernumerary copies of the critical region PWACR (it is the partial trisomy, resp. tetrasomy 15q11-q13) in majority of cases brings about serious affection described as syndrome of the inverted duplication of chromosome 15. The most typical symptoms are psychomotoric retardation, hypotony, neurological symptoms and autistic features. The article stresses the importance of FISH method in the prenatal examination of marker chromosomes.

Adult↗
PubMed2001

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.

Animals↗
PubMed2000

[Cooperation between genetic counseling centers, cytogenetic laboratories and in vitro fertilization centers in the treatment of reproductive disorders].

The techniques of assisted reproduction have recently become the most effective methods of treatment of infertility; namely ICSI (intra-cytoplasmic sperm injection), MESA (microepididymal sperm aspiration), TESA (testicular sperm aspiration) and TESE (testicular sperm extraction). The techniques have been increasingly successful, even above the average efficiency of classical IVF (in vitro fertilization). It can be demonstrated by the percentage of ICSI-aided births percentage per 100% of embryotransfers in ISCARE; 1996 = 21.3%, 1997 = 26.15%, 1998 = 29.7%. The successful use of these techniques is associated with the rise of risks which result from the selection of couples for assisted reproduction with genetic-based infertility and with the rise of risks involving the introduction of genetic-based defects in to the next generation. Presently, a list of indications is being developed, which, while still not accepted officially, identifies patients for genetic counselling. Only the counselling center has the competence to estimate genetic risks over generations. Subsequently, after selection by the center, during 1997 and 1998 the chromosomes of 731 patients were cytogenetically examined, representing 429 infertile couples from the centres ISCARE, PRONATAL, FERTIMED, and CAR 1. LF UK. Within these 429 couples, belonging to four groups of indications, the cytogenetic examination was informative in 8.15%. This finding of a relatively high percentage (10 times more than in the general population) confirms the validity of the list of indications and the necessity of cooperation among the genetic counselling center, cytogenetic laboratory and the IVF centre.

Chromosome Aberrations↗
PubMed1998

[Cleft lip and palate--prenatal diagnosis and counseling].

The most frequent congenital developmental defect in the orofacial region are, no doubt, facial clefts which are a serious stress for health professionals and the population. Depending on the type of cleft, the prevalence is between 1 : 1000-2800 births. According to contemporary views in the etiology of orofacial clefts participate genetic as well as environmental factors. That means that specific genetic factors create a certain "sensitivity" for specific factors of the external environment which act as a trigger mechanism and combined they produce the cleft. Cleft lip can be diagnosed already during the 13th week of gestation, while a cleft palate is not necessarily apparent till after the 18th week of gestation as the maxilla is in the process of joining. Presentation of the foetal face and its profile is thus important in particular during the second trimester of gestation and should be part of ultrasonographic screening between the 18th and 20th week of gestation. As more than 8% of facial clefts are associated with chromosomal abnormalities, in all affected foetuses karyotyping is done. The prognosis of satisfactory cosmetic and functional repair in cleft lip and in cleft lip and palate is favourable. In case of associated malformations all depends on the type and severity of these associated defects or on the diagnosis of the syndrome. If median clefts are extensive or associated with cerebral anomalies, the prognosis is as a rule poor. Prenatal diagnosis and management of defects of the orofacial area calls for collaboration of the obstetrician, neonatologist and plastic surgeon already in the stage when the defect is detected to give the expectant mother an opportunity to obtain accurate and unbiased information on possible treatment and prognosis for the foetus.

Cleft Lip↗
PubMed1997

[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].

The authors describe the first case of mucolipidosis II in the Czech Republic. The cause of this autosomal recessive hereditary disease is deficient synthesis of mannoso-6-phosphate ligand on precursors of lysosomal enzymes which normally make their transport into the lysosomal system possible. The diagnosis was proved by the presence of typical lysosomal cumulation in bioptic specimens and extremely elevated activity of lysosomal enzymes in the patient's serum caused by their non-regulated secretion and subsequent intracellular depletion. During the second pregnancy in the family prenatal diagnosis was made. A normal range of lysosomal enzyme activities in the supernatant of the amniotic fluid and in cultivated chorionic villi along with normal results of ultrastructural examination of the chorionic villus indicated the development of an intact foetus.

Czech Republic↗
PubMed1994

Parental consanguinity in two sibs with omodysplasia.

Two sibs with omodysplasia were born to phenotypically normal but consanguineous parents. They had severe micromelic dwarfism, facial anomalies, and mental retardation. One had a congenital heart defect. The radiographic findings are typical: hypoplastic distal end of the humerus with radioulnar diastasis. Parental consanguinity and clinical manifestations in 2 sibs suggest autosomal recessive inheritance.

Adult↗
PubMed1989

[Pfeiffer's syndrome].

The authors examined a 2-month-old infant with clinical signs of Pfeiffer's syndrome (craniosynostosis, abnormalities of the extremities, normal psychomotor development). In the family other affected cases were revealed with a variable expressivity of the clinical signs. The authors draw attention to the importance of a detailed clinical, X-ray and anthropometric examination of different members of the family to detect carriership of the gene for ACS.

Acrocephalosyndactylia↗
PubMed1989

[2 cases of Robinow's syndrome with mental retardation].

The author describes two children, cousins, who have all signs typical for Robinow's syndrome; they are mentally retarded and of gipsy origin. The author assumes autosomal recessive heredity, suggested by the marked skeletal anomaly and consanguinity in the family.

Adolescent↗