Cleft palate,hypotelorism, and hypospadias: Schilbach-Rott syndrome

A mother and two sons have cleft palate and facial appearance closely resembling cases described by Schilbach and Rott in 1988. One of the two males has hypospadias and learning disability and, like his mother, is of short stature. The family described by Schilbach and Rott also supports an autosomal dominant inheritance pattern.     

Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.     

Sparse hair,short stature,hypoplastic thumbs,single upper central incisor and abnormal skin pigmentation: A possible “new” form of ectodermal dysplasia

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.     

Inheritance of a ring 14 chromosome.

A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.     

Microcephaly, microphthalmos, and retinal folds: report of a family.

A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.     

Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the trichoodonto-onychial subgroup

A mother and two children with trichodysplasia, hypodontia, onychodysplasia (not present in the mother), mild skin alterations, bilateral inward deflection of the 4th toes, and other findings are described. This is an ectodermal dysplasia of the tricho-odonto-onychial subgroup probably due to an autosomal dominant gene.     

Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.     

A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12-p21) deletion syndrome

The clinical picture associated with a deletion of a central part of the short arm of chromosome no. 9 is described in two siblings. The clinical signs differ from those described in deletion of the terminal part of the short arm. Pericentric inversion of chromosome no. 9, combined with a rearrangement involving chromosomes 9 and 10, was found in the mother and the maternal grandmother of the propositus.     

Subtype-specific identification of influenza virus in cell cultures with FITC labelled egg yolk antibodies

We report on results obtained with a direct immunofluorescence test for subtype-specific identification of influenza virus in detached cells of MDCK cultures after inoculation of 281 clinical specimens from patients with influenzalike disease. Influenza virus antibodies were produced in eggs from immunized hens and labelled with FITC. In 157 cases CPE was found in MDCK cells. A total of 57 cases of influenza A (H3N2), 86 cases of influenza A (H1N1), and 14 cases of influenza B were identified. In 33 cases of influenza A (H1N1) infection with massive CPE guinea pig but not chicken erythrocytes were agglutinated by the cell culture supernatants. The single step immunofluorescence test described proved easy to perform and results were obtained within 1 h after CPE was observed in contrast to the conventional HIT which is very time-consuming.Dedicated to Professor Rudolf Rott on the occasion of his 60th birthday     

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter)

We reevaluated a unique family with two sibs who had a presumed autosomal recessively inherited syndrome characterized by mental retardation, microcephaly, short stature and absent phalanges. This family was originally described by Drayer et al. in 1977. Using modern molecular techniques, we demonstrated that the syndrome is caused by the recurrence of an apparently de novo 15qter deletion of 5.8 Mb. Analysis of polymorphic markers revealed that the deletion was of maternal origin in both cases, indicating germline mosaicism in the clinically unaffected mother. This study demonstrates the possibility of parental mosaicism and the risk of recurrence in sibs for terminal subtelomeric deletions.     

New Books and Reviews

Book Review in this Artile Electrophoresis and Isoelectric Focusing in Polyacrylamide Gel , Edited by R. C. Allen, Walter de Gruyter Current Topics in Microbiology and Immunology , Edited by W. Arber, R. Haas, W. Henle, P. H. Hofschneider, J. H. Humphrey, N. K. Jerne, P. Koldovsk, H. Koprowski, O. Maaløe, R. Rott, H. G. Schweiger, M. Sela, L. Syru?ek, P. K. Vogt, E. Wecker Current Topics in Microbiology and Immunology , Edited by W. Arber, R. Haas, W. Henle, P. H. Hofschneider, J. H. Humphrey, N. K. Jerne, P. Koldovsk, H. Koprowski, O. Maaløe, R. Rott, H. G. Schweiger, M. Sela, L. Syru?ek, P. K. Vogt, E. Wecker Molecular Population Genetics and Evolution , M. Nei (Frontiers of Biology, Vol. 40, Editors A. Neuberger, E. L. Tatum)     

Emotional reactivity in mice, a case of nongenetic heredity?

Nongenetic heredity cases have been described in man, as well as in animals, and relationships between parents and offspring seem to play an important role in this transmission. In mice, mothering type could be nongenetically heritable by a latent learning close to mechanism. As mothering style clearly influences emotional reactivity, this reactivity could be nongenetically transmitted over generations. To clarify this question, the mother's influence on adult offspring reactivity must be established (whatever its basis, genetic, social or other). Thus, two reciprocal F1 hybrids (CB6 from a BALB/c mother and B6C from a C57BL/6 mother) have been compared using an ethological analysis in animal tests of emotional reactivity such as the free exploration paradigm and the light/dark box. First results show a sharp influence of the mother's strain and that suggests an effect of mothering style. The offspring from C57BL/6 mothers display less reactivity in the free exploration paradigm than the offspring from BALB/c mothers. In the light/dark box, no difference has been found between the two hybrids. Moreover, the mother's influence is greater in males than in females.     

48, XXXY Klinefelter syndrome and nail-patella syndrome in the same child

A patient is described who in addition to having the 48, XXXY Klinefelter syndrome has the autosomal dominant nail-patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found. Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one X chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted. The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.     

Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene.

Molecular genetic studies in a seven-year-old boy and his mother demonstrated a novel 11 bp deletion in the TWIST gene (127del11), causing Saethre-Chotzen syndrome. The mother had rather mild signs of the Saethre-Chotzen syndrome; however, her son presented with marked acrocephalosyndactyly type 3, leading to craniotomy at three years. He also had recurrent infections and laboratory findings comparable with the hyper IgE syndrome, a rare primary immunodeficiency disorder. It is likely that the 11bp deletion caused the Saethre-Chotzen syndrome in the patient and his mother, and another, not yet identified genetic defect, seen in the patient but not in the mother, is responsible for the hyper IgE phenotype. A combination of these two congenital conditions has not been described to date.     

Direct transmission of a tandem duplication in the short arm of chromosome 8

A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial duplication of an autosomal chromosome segment.     

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly described phenotype, is due to a novel non-conservative missense mutation in the ARX homeodomain (c.1072A>T; p.R358W), inherited from the unaffected mother. Differently from previously reported non-conservative mutations falling within the same domain, p.R358W did not cause XLAG. It is therefore possible that differences in clinical manifestations between our patient and those with XLAG, are related to the different position of the amino acid substitution in the homeodomain, or to the different chemical properties introduced by the substitution itself. To test the hypothesis that the patient's mother was asymptomatic because of non-random X chromosome inactivation (XCI), we performed DNA methylation studies of the human androgen receptor gene, demonstrating skewing of the XCI ratio (85:15). The complex phenotype described here combines different traits that had previously been linked to various ARX mutations, including conservative missense mutations in the homeodomain and expansion in the first ARX polyalanine tract and contributes to the expanding pleiotropy associated with ARX mutations.     

On the structure of the carbohydrate chains of different strains of the influenza virus

Structural features of the glycosyl chains of the influenca virus have been determined. It was found that fucose was solely terminal, whereas mannose and galactose were present at the terminal as well as subterminal and core positions. Mannose and glucose molecules were shown to be branching points in the glycosyl chains. Furthermore, linkage positions of carbohydrates within the chains were characterized.This work was supported by the Sonderforschungsbereich 47 (Virologie). The constructive criticism and valuable suggestions of R. Rott and H.-D. Klenk are very much appreciated.     

High resolution of a small pericentric inversion of chromosome 11.

A pericentric inversion 11 (p11q13.3) segragating in two generations is described. A high degree of resolution of the inversion was achieved by using prophase and prometaphase chromosomes from methotrexate-synchronised cells. The inversion occurred in a mother and three of her ten children. It had no detectable clinical consequences.     

A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs

We describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a "coarse" face with synophrys, ear anomalies, type B brachydactyly, nail dysplasia, skeletal anomalies, dwarfism, and mental retardation. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a "coarse" face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X-linked semidominant gene.