Biomedical subjects

J Murken

Publications and source records attributed to J Murken.

8 recordsLinked to original sources

PubMed1992

De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy.

A 10-year-old boy with a de novo del(16)(q12.1q13) and many features of the deletion 16q phenotype is described. The deletion occurred in a paternal chromosome as demonstrated by DNA studies with polymorphic (AC)n microsatellite repeat markers. Comparison with published cases suggests that deletion of either of two regions (q13 and q22.1) on the long arm of chromosome 16 is associated with an apparently identical phenotype. No parental imprinting of this region was demonstrated.

Abnormalities, Multiple↗

PubMed1991

Trisomy 18 in chorionic villus sampling: problems and consequences.

Among 1547 patients undergoing first-trimester prenatal diagnosis, 100 fetal chromosome aberrations were detected. Thirteen of these involved chromosome 18. In two structural abnormalities of chromosome 18, the aberration could be excluded in amniotic fluid cells and two healthy infants were born. Trisomy 18 was not confirmed in amniotic fluid cells in three trisomy 18 mosaics. In eight non-mosaic trisomy 18 first-trimester diagnoses, the diagnosis was excluded by amniotic fluid cells or fetal cultures in four, and confirmed in the remaining four. Diagnosis of chromosome 18 aberrations in the direct preparation should be confirmed in the long-term culture of the chorionic villus sample or by amniotic fluid cultures.

Amniocentesis↗

PubMed1991

[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases].

Progress in molecular genetics has provided insight into a number of neurogenetic disorders. The chromosomal location of the genes for Huntington's disease, Wilson's disease, myotonic dystrophy and Friedreich's ataxia are now known. In families affected by these illnesses, linkage analysis can now be employed for presymptomatic or prenatal diagnosis. The genes for Duchenne and Becker muscular dystrophy and neurofibromatosis I have been cloned and sequenced, allowing the direct analysis of the genetic defect in many cases, and thereby providing further insight into the pathophysiology. In addition, the classification of several neurogenetic diseases, such as the hereditary motor and sensory neuropathies or the spinal muscular atrophies can now be based on the chromosomal location of the affected gene(s).

Chromosome Mapping↗

PubMed1990

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics.

DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization. The entire X chromosome was stained in metaphase spreads. Interphase chromosome domains of both the active and inactive X were clearly delineated. CISS-hybridization of the Y chromosome resulted in the specific decoration of the euchromatic part (Ypter-q11), whereas the heterochromatic part (Yq12) remained unlabeled. The stained part of the Y chromosome formed a compact domain in interphase nuclei. This approach was applied to amniotic fluid cells containing a ring chromosome of unknown origin (47,XY: +r). The ring chromosome was not stained by library probes from the gonosomes, thereby suggesting its autosomal origin. The sensitivity of CISS-hybridization was demonstrated by the detection of small translocations and fragments in human lymphocyte metaphase spreads after irradiation with 60Co-gamma-rays. Lymphocyte cultures from two XX-males were investigated by CISS-hybridization with Y-library probes. In both cases, metaphase spreads demonstrated a translocation of Yp-material to the short arm of an X chromosome. The translocated Y-material could also be demonstrated directly in interphase nuclei. CISS-hybridization of autosomes 7 and 13 was used for prenatal diagnosis in a case with a known balanced translocation t(7:13) in the father. The same translocation was observed in amniotic fluid cells from the fetus. Specific staining of the chromosomes involved in such translocations will be particularly important, in the future, in cases that cannot be solved reliably by conventional chromosome banding alone.

Chromosome Aberrations↗

PubMed1990

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotropic hypogonadism and anosmia. Six families in which the disorder followed an X-linked inheritance were investigated by linkage analysis. Diagnostic criteria were uniformly applied and included tests for hypogonadotropic hypogonadism and anosmia. Close linkage was found by using the hypervariable repeated sequence CRI-S232 (DXS278) previously mapped to Xp22.3. At a maximum lod score of 6.5, the recombination fraction was calculated as .03. Of 30 fully informative meioses, one recombination between the disease locus and the loci recognized by probe CRI-S232 was observed. When an independent approach is used, these results confirm the X-linked Kallmann syndrome assignment previously made by deletion mapping, and allow definitive localization of the syndrome assignment previously made by deletion mapping, and allow definitive localization of the syndrome to the Xp22.3 region. This opens the way to carrier detection and to the identification of a gene responsible for this disorder.

Chromosome Mapping↗

PubMed1989

Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255).

A hypervariable DNA marker is closely linked to one of the most severe forms of night blindness, X-linked retinitis pigmentosa (RP). Affected individuals with X-linked RP, obligate carriers, and ophthalmologically identifiable carriers of the disease were included in a linkage study. The diagnosis was established in five sibships by funduscopic and electrophysiological investigations. When the X-linked probe M27 beta was used, 2 recombinants out of 29 informative meioses were detected (theta = 0.07 at a maximum lod of 4.75). The hypervariable probe detected two different alleles in 38 of 39 females tested. M27 beta is therefore a potentially very useful probe for carrier detection and prenatal diagnosis, as well as for addressing the question of heterogeneity of X-linked RP.

Female↗

PubMed1989

[Subjective experience of prenatal diagnosis and genetic counseling].

Two surveys (one involving 650, the other 638 women) based upon interviews about the utilization of prenatal diagnosis by clients are reported. First it is demonstrated which factors obstruct a decision for prenatal diagnosis. Then, a contrast is made between the risk attitude of two groups, namely women who underwent amniocentesis or chorion villi biopsy and those respondents who decided against prenatal diagnosis. Finally, how the examination technique (amniocentesis or chorion villi biopsy) influences the experience of pregnancy is discussed.

Adaptation, Psychological↗

PubMed1989

[Psychosocial aspects of the decision to utilize prenatal diagnosis--results of an empirical study].

After undergoing amniocentesis and delivering their child 504 women were asked by questionnaire for their attitude towards and their experience of pregnancy and amniocentesis. The majority of the women reported that they experienced their decision to utilise amniocentesis as largely unproblematic. In most cases they had already come to a decision before genetic counselling resulting from talking things over with their partner and their gynaecologist. The decision was mostly based on risk assessment and less by considerations of potential consequences of the operation. On the other hand, nearly one-quarter of the respondents found it difficult to decide on their line of action. Their decision was taken more often during or after genetic counselling, and their partner disagreed more frequently with amniocentesis. In this group of women there were more respondents who refused an induced abortion if their child was severely handicapped, than in the group without difficulties with their decision. Disadvantages, consequences of the operation, and conflicts stemming from the social environment of the expectant woman were mentioned as additional reasons for difficulties in arriving at a decision. Potential implications for genetic counselling practice are discussed.

Adult↗