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.

Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 (OFD-I) and type 2 (OFD-II), it is important to establish a correct diagnosis in these patients. In this report two new patients with the OFD-I syndrome are presented. One of them (Case 1) had multiple congenital malformations and never made any mental contact.

Partial trisomy 3q (3q25----qter) syndrome in two siblings.

Two cases of trisomy 3q25----qter are reported. The features of the partial trisomy 3q and the differences from and similarities to the mucolipidosis II and Cornelia de Lange syndromes are discussed.

Familial minor neurodevelopmental disorders.

Sixteen patients (13 males and 3 females) with minor neurodevelopmental disorders from 7 families were examined in an etiologic study. In four of the families (3, 5, 6 and 7) no brain damaging factors could be traced in the prenatal, perinatal or postnatal periods, and genetic main etiologies were strongly suspected. In one family (1) alcohol abuse during the pregnancies was thought to be an etiologically contributing factor.

Spatial distribution of the gene for infantile genetic agranulocytosis.

Evidence is presented for a single founder for infantile genetic agranulocytosis in Sweden. The likely place of origin is the parish of Overkalix in northern Sweden. Estimates are also given for the number of generations since the appearance of the founder.

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.

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.

Shock-elicited aggression as a function of acute and chronic ethanol challenges.

In a test of competing hypotheses regarding the effects of alcohol on shock-elicited aggression, animals maintained on a food restricted regimen were administered either chronic or acute ethanol challenges. Chronic Ss showed a significantly higher rate of target-directed aggression and spent significantly more time in aggressive activity than did acute or saline control animals. Results support the proposed interactive effect of food restriction and extended periods of alcohol intake leading to increased aggression.

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.

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.

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.

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.

Catechol-o-methyltransferase activity in erythrocytes in Down's syndrome: family studies.

Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three.

A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19P.

In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.

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.