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Biomedical subjects

K H Gustavson

Publications and source records attributed to K H Gustavson.

At least 127 records · Page 7Linked to original sources
PubMed1984

Delineation of a characteristic phenotype in distal trisomy 2q.

A recombinant chromosome change with dup(2)(q34----qter) secondary to a paternal inv(2) (pter----q34) was found in a 19-year-old boy and his 12-year-old sister. Both were born at term with normal birth weight and head circumference. Hypertelorism, irregular nystagmus, broad flat nasal bridge, and short beaked nose with anteverted nostrils were noted neonatally. Both developed microcephaly and brachycephaly. Cardiac, urogenital, retinal, and optic disc anomalies and onset of progressive kyphosis in adolescence were detected. Their facial appearance, with birdlike "Muppet Gonzo" features, was increasingly accentuated with age. Both had mild mental retardation with IQ's around 70. The clinical findings in these siblings were compared with those described in 23 cases with various 2q partial trisomies. The results of the present study and previous studies indicate a characteristic clinical presentation in children and adults. The reluctance to define the specific phenotype for distal 2q trisomy might be due to the fact that the clinical features tend to be considerably more pronounced towards adolescence than neonatally.

Abnormalities, Multiple↗
PubMed1983

Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study.

In an extensive etiological study of an unselected series of mildly mentally retarded children (MMR) (IQ 50-70) born 1959-1970 in a northern Swedish county, 5 of 110 boys (4.5%) and none of 61 girls had a fragile site on the distal end of the X-chromosome (Fra Xq 28). Consequently fragile X was seen in 2.9% of the total series of 171 children. In a combined series of severe and mild mental retardation, the incidence of the fragile X syndrome was calculated to be 1:3000 in the county of Västerbotten. Next to trisomy 21 the fragile X syndrome was the most common single identified cause of MMR in boys. A cytogenetic investigation using special cultural conditions and banding techniques should be performed in cases of mental retardation of unclear etiology and in possible female carriers.

Adolescent↗
PubMed1983

Chromosomal breakage in multiple endocrine adenomatosis (types I and II).

Chromosomal analyses of cultured lymphocytes from nine patients with familial multiple endocrine adenomatosis (MEA) syndrome type I from six families and two patients - father and daughter - with familial MEA syndrome type II showed an increased frequency of chromosomal breakage. The frequency of sister chromatid exchanges was not increased.

Cells, Cultured↗
PubMed1983

Blastic phase of myeloproliferative syndrome coexisting with a malignant teratoma.

A myeloproliferative condition in blastic phase is described in an 18-year-old male who was also found to have a mediastinal malignant teratoma. Myeloid metaplasia was found in the lymph nodes and spleen, and an infiltration of granulocytic blast cells was observed in the bone marrow and the lymph nodes. Aneuploidy with an extra chromosome (trisomy 8) was present in bone marrow cells. To our knowledge the combination of a myeloproliferative disorder and a malignant teratoma has not been earlier described.

Adolescent↗
PubMed1983

Serum levels of radioreceptor-assayable somatomedins in children with minor neurodevelopmental disorders.

The somatomedins are a family of multitarget, growth-promoting hormones suggested to play a regulatory role in the central nervous system. Serum concentrations of somatomedins were determined by a radioreceptor assay in 26 patients (19 boys and 7 girls) with minor neurodevelopmental disorders. Five of these 26 patients showed high serum levels (greater than 2 S.D.) of somatomedins. It is concluded that patients with elevated concentrations of somatomedins might represent a pathogenetic subgroup.

Adolescent↗
PubMed1983

Zellweger's cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis.

Two siblings with Zellweger's cerebro-hepato-renal syndrome are reported. The two children both had multiple anomalies associated with Zellweger's syndrome such as characteristic facial appearance, cerebral dysfunction, muscular hypotonia, liver abnormalities, failure to thrive, marasm and early death. One of the children, a girl, lacked several anomalies that were present in her brother. In one of the children bile acid analysis was performed by use of gas chromatography-mass spectrometry. 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acid (THCA) and varanic acid, both precursors of cholic acid, were found. The defect bile acid synthesis may be due both to liver mitochondrial abnormalities and to the absence of liver peroxisomes, conditions known to occur in Zellweger's syndrome.

Abnormalities, Multiple↗
PubMed1982

A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation.

A familial 13p;15q translocation was ascertained through a mentally retarded boy with a proximal trisomy 15 syndrome. His mother, who was a balanced 13p;15q carrier, had in addition a legal abortion after 22 weeks of gestation because of a prenatal diagnosis of distal trisomy 15 in a male foetus. Her mother and two sisters, who were balanced carriers, all had children with either a normal karyotype or a balanced translocation or had had pregnancies resulting in an early spontaneous abortion.

Adolescent↗
PubMed1981

Mild mental retardation in children in a northern Swedish county.

A series of children with mild mental retardation (171 children, IQ 50-69) born in 1959-1970 in a northern Swedish county and registered by the Board for Provisions and Services to the Mentally Retarded were analysed retrospectively. The mean annual incidence of mild mental retardation in registered children alive at the age of one year decreased during the period 1959-1970 and for the whole period was 4.2 per 1000, compared with 3.9 per 1000 for severe mental retardation in the same period of time and area. Ten children once classified as mildly mentally retarded made considerable intellectual progress and after some time no longer needed special help from the authorities. There was a pronounced male excess in the total series (1.8:1) and in all the main aetiological groups. Only small differences were found in mean birth weights, gestational age and maternal age in the main aetiological groups. In the series as a whole, however, there was an increased frequency of children small for gestational age. Prenatal causes were considered relevant in 43 per cent, perinatal in 7 per cent, and postnatal in 5 per cent. In 2 per cent there was a psychosis. In 43 per cent the aetiology could not be traced. Genetic causes were found in 31 per cent; in 8 per cent there was a chromosomal aetiology, in a further 8 per cent a mutant gene disorder and in 15 per cent the aetiology were considered multifactorial, i.e. at least one first-degree relative also had mental retardation and in both cases the cause of the retardation was unknown. Thirty per cent of the children had associated CNS handicaps, epilepsy (16 per cent) being the most frequent.

Adolescent↗
PubMed1981

Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.

X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism, large hands and large, folded ears. In the other family, macro-orchidism was not seen, possible because the boys were younger. Fragile site X chromosomes were also seen in three obligate carriers. A summary of earlier published cases of X-linked MR associated with the fragile X chromosome is given.

Abnormalities, Multiple↗
PubMed1981

Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study.

Sjögren-Larsson syndrome (SLS), originally described in Sweden, has been studied in a countrywide survey. A total of 58 SLS patients in 41 families were traced, 35 of them still alive. Thirty patients, 23 alive and seven deceased, have not been reported earlier. The mean incidences per 100,000 in the years 1901-1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 per 100,000 in the county of Norrbotten. In the above-mentioned areas, the prevalence figures of SLS on 31st December 1978 were estimated to be 0.4, 8.3 and 2.6 per 100,000 persons, the frequencies of SLS gene carriers 0.5, 2.0 and 1.0%, and the gene frequencies 0.002, 0.010 and 0.005, respectively. Of the 58 identified Swedish SLS patients, 45 were born in a restricted area in the northeast of Sweden.

Adolescent↗