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Biomedical subjects

T W Hustinx

Publications and source records attributed to T W Hustinx.

At least 37 records · Page 2Linked to original sources
PubMed1983

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in ths exceptional family are reported and discussed.

Adrenal Hyperplasia, Congenital↗
PubMed1982

Prometaphase banding of human chromosomes with basic fuchsin.

A technique is described for the production of detailed and richly contrasting G-band patterns in human prometaphase chromosomes with the aid of the triphenylmethane dye basic fuchsin. The usefulness of this method is illustrated by its application for the precise analysis of two chromosome 11 rearrangements. It is also demonstrated that high-resolution banding with basic fuchsin can reveal bands not present in the international standard idiogram of human prophase chromosomes (ISCN 1981). The technique described can also be used for easy recognition of the late replicating X chromosome, which stains darker than its early replicating homologue. A preliminary analysis of the late replicating X chromosomes in a 49,XXXXY individual suggests that the three supernumerary X chromosomes do not necessarily replicate synchronously.

Chromosome Banding↗
PubMed1982

X-linked congenital hydrocephalus.

In this report we describe a Dutch family with ten cases of X-linked recessive congenital hydrocephalus with a high perinatal mortality. In three cases necropsy has confirmed the diagnosis. In the best documented case the most striking features are absence of obstruction or stenosis of the aqueduct and congenital malformation of the cerebral cortex. On the basis of our findings and on reviewing the literature, the hypothesis is put forward that the defective gene on the X-chromosome is responsible for a pathological influence on cerebral cortex development and extraventricular CSF pathways. The expressivity of the genetic defect may be variable, causing extreme phenotypic variants (CHC and/or MR) under the influence of the different modifying genetic or environmental factors. Genetic counselling is difficult in families with no X-linked CHC precedent, since the mutant gene rather produces a communicating HC, secondarily complicated by narrowing of the aqueduct, and as at present there is no way of detecting beforehand heterozygote carriers.

Brain↗
PubMed1981

Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins.

Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease. Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process. The hereditary transmission is most consistent with a sex-linked recessive pattern. Different X-linked signs seem combined in the presented cases.

Biopsy↗
PubMed1981

A new chromosomal instability disorder: the Nijmegen breakage syndrome.

A 10-year-old boy with microcephaly, stunted growth, mental retardation, café-au-lait spots and immunodeficiency is described. An older brother of the patient had the same clinical symptoms and a more severe immunodeficiency. Cytogenetic studies in the proband revealed a typical form of chromosome instability with multiple rearrangements of chromosomes 7 and 14. Such abnormalities were also present, though in very low frequencies, in the father and three of the phenotypically normal sibs. The similarity of the symptoms in the two sibs, the close consanguinity of their parents and the results of the cytogenetic studies in the family favour the hypothesis that the disorder is an inherited one. The clinical features and the chromosome aberrations as present in the proband are usually found in chromosomal breakage syndromes, but it was possible to exclude each of the classical chromosomal breakage syndromes on clinical and/or cytogenetic grounds.

Adolescent↗
PubMed1980

A case of AMMoL with 8/21 translocation and loss of the Y as probably secondary events.

The clinical, hematological, and cytogenetic characteristics of a male patient with AMMoL are described. Before treatment a clone with the complex karyotype 45,X,del(7)(q32), t(8;21)(q22;q22) was present in the bone marrow. During partial remission induced by cytostatics, the percentage of normal cells increased, and a cell line having a 46,XY,del(7)(q32) karyotype was found. After four therapy courses, when remission was complete, only chromosomally normal cells were seen. The cytogenetic data suggest that in this case the 8/21 translocation and loss of the Y chromosome were only secondary events.

Antineoplastic Agents↗
PubMed1980

Nomarski-optical studies of human chromosomes R-banded with barium hydroxide.

The morphologic changes occurring in human chromosomes during R-banding by Ba(OH)2 treatment were followed with the aid of bright-field and Nomarski interference contrast microscopy. It was found that the hot Ba(OH)2 pretreatment alone, i.e., without staining, caused a pattern of transverse ridges in the chromosomes that clearly corresponded to positive R-band regions. No chromosomal collapse could be seen during any stage of the R-banding procedure. Thus these events contrast with those observed in G-band formation with trypsin, where complete chromosomal collapse occurs after pretreatment and where staining is necessary to induce G-band ridges. The possible mechanism of R-band induction by Ba(OH)2 is discussed. It is proposed that the R-band ridges arise as a result of chromatin loss from the interband regions during the hot alkaline pretreatment.

Azure Stains↗
PubMed1980

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.

This paper describes the unexpected transmission of a translocation (22;22)(p13;q11) from a mother to her phenotypically normal daughter (the proband). Both women had had multiple abortions. No signs of mosaicism with respect to chromosome No. 22 were found in the proband or in her mother. Until now, it has been generally assumed that carriers of a 22/22 translocation will have only abnormal conceptuses. The transmission of this translocation from a balanced carrier to a phenotypically normal daughter was therefore highly unexpected and is not easy to explain. Early postzygotic loss of a chromosome no. 22 from a trisomic zygote, or fertilization of an oocyte carrying the translocation by a sperm nullisomic for chromosome no. 22 could have led to the balanced chromosome pattern of the proband.

Abortion, Habitual↗
PubMed1979

Karyotype instability with multiple 7/14 and 7/7 rearrangements.

Chromosomes were studied in a mentally retarded boy with microcephaly, growth retardation, facial erythema, café-au-lait spots, and IgA deficiency. In the lymphocytes there was a remarkable tendency to exchange parts of the chromosomes Nos. 7 and 14, the translocations almost exclusively taking place in bands 7p13, 7q32 and 14q11. Seven different types of rearrangements between Nos. 7 and 14, and some other chromosomal aberrations were found. No abnormalities could be detected in the bone marrow. The patient somewhat resembles those affected with ataxia-telangiectasia or with Bloom's syndrome, but on clinical and cytogenetic grounds these disorders could be excluded. 7/14 Translocations similar to those found in our patient's lymphocytes have been reported to occur very rarely in the lymphocyte cultures of individuals with apparently normal chromosome constitution. A relationship between these phenomena may exist.

Child↗
PubMed1978

15/17 translocation in acute promyelocytic leukaemia.

A translocation between a chromosome 15 and a chromosome 17 was found in the bone marrow of a 14-year-old boy who had clinical and laboratory symptoms of acute promyelocytic leukemia (APL). As far as we know, this is the sixth case of APL with 15/17 translocation to be reported in the literature. This observation gives further support to the hypothesis that there is an association between this chromosomal rearrangement and APL.

Adolescent↗
PubMed1978

A case of partial 9p monosomy with some unusual clinical features.

A patient is described with a karyotype 46,XX,del(9)(qter leads to p22:) and having the main clinical characteristics of pure monosomy for part of the short arm of chromosome No 9, among which craniosynostosis and trigonocephaly. She has also a few atypical features: a clearly advanced osseous maturation, marked congenital vertebral anomalies and unusual dermatoglyphics.

Abnormalities, Multiple↗