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Biomedical subjects

M J Becker-Bloemkolk

Publications and source records attributed to M J Becker-Bloemkolk.

9 recordsLinked to original sources
PubMed1981

SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

A balanced maternal chromosome translocation (9p24;21q214) resulted in two offspring with unbalanced karyotypes. One of these, a girl trisomic for both segment 9pter to 9p24 and segment 21pter to 21q214, was found to have a SOD-A activity not significantly different from those found in a group of five cases with trisomy 21. However, clinical evaluation of this girl revealed no symptoms of the Down syndrome. These findings suggest that, providing the gene dosage theory is correct, the gene for SOD-A is probably localized on chromosome 21 proximal to, or in, band q21.

Child↗
PubMed1980

Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters.

The clinical, laboratory, histologic and autopsy findings are reported from a live-born male infant with severe congenital skin defects (CSD) who survived for 2 days. The family history revealed consanguinity of the (Turkish) parents. The patient was compared with 10 cases from the literature with the most severe form of CSD. The combination of severe CSD, parental consanguinity and gastrointestinal atresia was found in 3 of these 11 cases, including our own patient. Differentiation from an atypical form of epidermolysis bullosa, complicated by pyloric atresia, is difficult. The mechanism of the (prenatally detected) elevated amniotic fluid alpha 1-fetoprotein (AFP) level is discussed. The finding of a balanced 13q14q chromosome translocation in the infant and his mother is considered a coincidence.

Abnormalities, Multiple↗
PubMed1979

Five familial cases with a trisomy 16p syndrome due to translocation.

A clinical description is given of a syndrome present in three postnatally and two prenatally detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (p11;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low-set ears, palato(gnatho)schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.

Abnormalities, Multiple↗
PubMed1978

Prenatal diagnosis of Meckel syndrome.

The three main features of Meckel syndrome are encephalocele, polycystic kidneys, and polydactyly. Prenatal diagnosis of a fetus with Meckel syndrome was made in the 16th week of gestation by means of amniotic fluid alpha1 fetoprotein estimation. The indication for amniocentesis was a previous child with an occipital meningocele and polycystic kidneys. Interpretation of the alpha1-fetoprotein value (240 microgram/ml) was difficult due to fetal blood contamination. Prenatal diagnosis is indicated in any pregnancy following the birth of a child with only two major symptoms of Meckel syndrome.

Amniotic Fluid↗
PubMed1977

A sensitive method for the detection of herpes simplex virus type 2 specific thymidine kinase.

Thymidine kinase (TK) activity of uninfected and in vitro herpes simplex virus type 2 (HSV-2) infected human fetal lung cells was analyzed. Polyacrylamide gel electrophoresis was carried out, and subsequent incubation of equally divided gel slices in the presence of normal or anti-HSV-2 specific TK serum, together with different substrates, was performed. Small amounts of virus-specific enzyme could be detected using this combination of electrophoresis and antibodies and replacing ATP by CTP in the substrate medium.

Adenosine Triphosphate↗