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Monosomy 1p36 is a recently delineated contiguous gene syndrome, which is now considered to be one of the most common subtelomeric microdeletion syndromes. We report four unrelated patients with subtle deletions within 1p36 confirmed by high resolution karyotyping and FISH. All exhibited severe psychomotor retardation. Microcephaly, seizures, and visual impairment occurred in three subjects. Results of a first routine karyotyping were unrevealing in three probands. The diagnosis was primarily suggested on the basis of a distinct pattern of facial anomalies in all except the first case. This report illustrates that monosomy 1p36 may be recognized clinically, at least in some patients, whereas the diagnosis is easily missed on routine karyotype.

The families of the 18 patients with hypoplastic left heart syndrome (HLH), who died in the Universitätskinderklinik Erlangen between 1967 and January 1974, have been investigated. There was no consanguinity of the parents. Only one sib has died of a cardiac failure which possibly could have been HLH. Therefore it could be excluded that HLH is an autosomal-recessive disorder. The overall incidence of cardiac failure in the sibs of patients was 3. Most of the patients with HLH have been born in June-August and December-January. Environmental factors seem to be of importance in the genesis of HLH. Our results suggest multifactorial inheritance of the hypoplastic left heart syndrome.

In three girls, aged 14, 15 and 16 years, the chromosome analysis revealed a morphologically abnormal, enlarged X-chromosome resembling in size and centromere position the chromosome no. 2. The translocation points were different in all three cases. The Barr-bodies were enlarged. In two girls a 45,X mosaicism (25% and 10%) was found in lymphocyte cultures. The length at birth was 43, 47 and 48 cm, and none of the girls was born before term. The main clinical abnormalities in all three cases were a marked growth retardation, slight morphological dysplasias, lack of sexual development and social immaturity. GH and cortisol secretion during an insulin tolerance test were normal. LH and FSH were elevated and showed an exaggerated reaction on LH-RH. Oestrogens were low normal and androgens within the normal range. At laparatomy the gonads were found to be streak gonads. For two girls cell cultures of gonadal tissue were set up, the chromosome findings of which corresponded to those of the lymphocyte cultures. The abnormality of the gonosomes reported here seems to represent a special form of gonadal dysgenesis. Although the translocation points were different in the three patients and one had no mosaic, while the other two showed 45,X/46,XX mosaicism, the clinical and hormonal findings were nearly the same for all three girls.

A twelve-months-old female is reported with double trisomy of the autosomes 18 and 21 (48,XX,+18,+21), exhibiting the clinical features of mongolism. The findings of this patient and the data of fourteen previously reported cases with double autosomal trisomy, twelve of them mosaics, may be summarised as follows: The mean birth weight was lower than in the single trisomies D, E, and G. The distribution of the maternal ages at birth of the patients was striking: six mothers were younger than 21 years, seven mothers were older than 34 years. In those patients with prevalence of one of the two extra chromosomes in their karyotypes, the corresponding trisomy syndrome also predominated clinically. In those cases with an equal proportion of both additional chromosomes there were as many patients with clinical predominance of the one as of the other trisomy syndrome. Survival beyond the second half of the first year of life was seen only in those patients who showed the clinical picture of mongolism.

Case reports of 55 patients with arteriohepatic dysplasia are evaluated (51 cases reported in the literature, 4 own cases). The main features of this syndrome are dysmorphous facial structure, peripheral pulmonic stenoses, intrahepatic cholestasis, and growth retardation secondary to the liver impairment. In addition, the patients may exhibit vertebral anomalies, retarded mental and sexual development, ocular and renal anomalies. The syndrome probably is inherited as an autosomal dominant trait with variable penetrance and expressivity. Therapeutically cholestyramine in high dosage, phenobarbital and fat-soluble vitamins may be tried.

It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.

Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve. The parents of the children presented with minor symptoms such as dysplasia iridis, arcus lipoides and hyperlipemic vascular signs in the retina. Differential diagnostic considerations suggest a hereditary disease, the pathogenesis of which is not completely clear.

The chromosomes of 6 (5 females, 1 male) newborns have been examined before and after exchange transfusion. The highest percentage of donor lymphocytes has been found immediately after the exchange transfusion (9%, range 5 to 16%). The percentage of donor lymphocytes had decreased to 4% after 24 hours and to 1% after 3 weeks. There was no hint of a clastogenic effect of phototherapy and exchange transfusion.

Two cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 46,XY, t(2;8(q32;p23)]. When the two patients were compared to the few cases reported in the literature, it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.

Acrodermatitis enteropathica is a very rare disease, usually occurring during child age, but also in grown-ups. Symptoms are skin lesions localized periorally and acrally, alopecia, diarrhea and psychic alterations. The disease is caused by zinc deficiency due to malabsorption. The diagnosis can be established by decreased plasma levels of zinc; typical changes of the Paneth cells may be demonstrated by electron microscopy. Substitution by supplying zinc will lead to complete clinical healing.

In a 3 3/4 year old boy with mental and physical retardation, a chromosome analysis from lymphocyte cultures revealed a partial deletion of chromosome 1q following a pericentric inversion. The chromosomes of the parents were normal. The clinical picture of the patient included the following characteristics: prominent occiput, small chin, deep-seated and dysplastic ears, abnormal vortices of the hair, divided tip of the tongue, high palate, small finger and toe nails, inguinal hernia both sides, undescended but normal sized testes, hypotonic musculature and overextensible joints, retardation of ossification in the left hand by 6-12 months, slight osteoporosis, EQ approximately 0.5.

A translocation 2/6 inherited for 3 generations is described. The propositus, carrier of a partial trisomy 2p, showed multiple morphological anomalies of which microphtalmus and persistance of primary vitreous body were of particular interest. Based on a comparison of this with seven other patients in the literature, the most characteristic clinical symptoms of partial trisomy 2p are concluded to be the following: abundant lanugo at birth, glabella prominence, anteverted nares, dermatoglyphic anomalies, and malformations of the eyes.