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R A Pfeiffer

Publications and source records attributed to R A Pfeiffer.

At least 91 records · Page 5Linked to original sources
PubMed1990

An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.

A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare. It is noteworthy that the first metacarpal bone is not abnormal. This association is delineated from two other "facio-audio-symphalangism" syndromes and from Wildervanck syndrome. Our observation confirms one previous description only by Pierson et al. (1981).

Adolescent↗
PubMed1990

[A solitary central maxillary incisor and holoprosencephaly in siblings].

In families in which holoprosencephaly seems to be inherited by a rare dominant autosomal mutation, some individuals exhibit a single central maxillary incisor (SCMI). This anomaly was considered a minimal manifestation of the gene for holoprosencephaly. We report on a family, in which one child suffered from median cleft lip and palate and alobar holoprosencephaly, whereas the other child only had a SCMI. In the father and his sister lateral upper incisors were absent. Therefore the question is raised as to whether this anomaly may be related to the same condition.

Anodontia↗
PubMed1989

[Are monozygous twins and twin-specific abnormalities more prevalent following extracorporeal fertilization? A comment on studies of the Gynecologic Clinic of the Erlangen-Nürnberg University].

IVF was performed in the Department of Gynecology and Obstetrics, University of Erlangen-Nürnberg, and monozygotic twins were established in one case, but were indicated in two more cases. In further two cases one sexlike twin had died from caudal regression. This malformation complex, which has been noted very occasionally in monozygotic twins, is considered to be related to the twinning process. The question is raised, as to whether after IVF monozygotic twins are expected more frequently. Furthermore the importance of this question is discussed with reference to recent observations in twin research.

Abnormalities, Multiple↗
PubMed1989

[Variants of radial hemimelia with and without vitium cordis (Holt-Oram syndrome) in 2 families].

In two families radial hemimelia is inherited as a dominant trait. The first proposita suffered from bilateral radial aplasia, the 2nd propositus exhibited (pseudo)phocomelia. In this case the diagnosis was Holt-Oram-syndrome. The affected mothers showed unilateral hypoplasia of the thumb only. Cases like these ones are likely to be overlooked or misinterpreted. The recurrence risk is 50%. Similar observations are quoted. The cause of "variable expressivity" is unknown.

Child↗
PubMed1988

Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome.

Absence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA-syndrome was reported. The literature is reviewed with respect to ulno-fibular malformations.

Abnormalities, Multiple↗
PubMed1988

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

While performing a systematic search for chromosomal microdeletions in patients with clinically complex X-linked syndromes, we have observed that large male-viable deletions and duplications are clustered in heterochromatic regions of the X chromosome. Apart from the Xp21 band, where numerous deletions have been found that encompass the Duchenne muscular dystrophy gene, an increasing number of deletions and duplications have been observed that span (part of) the Xq21 segment. To refine the molecular and genetic map of this region, we have employed 52 cloned single-copy DNA sequences from the Xcen-q22 segment to characterize two partly overlapping tandem duplications and two interstitial deletions on the proximal long arm of the human X chromosome. Together with a panel of somatic cell hybrids that had been described earlier, these four rearrangements enabled us to order the 52 probes into nine different groups and to narrow the regional assignment of several genes, including those for tapetochoroidal dystrophy and anhidrotic ectodermal dysplasia.

Chromosome Banding↗
PubMed1987

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.

An insertional translocation into the proximal long arm of the X chromosome in a boy showing muscular hypotony, growth retardation, psychomotor retardation, cryptorchidism, and Pelizaeus-Merzbacher disease (PMD) was identified as a duplication of the Xq21-q22 segment by employing DNA probes. With densitometric scanning for quantitation of hybridization signals, 15 Xq probes were assigned to the duplicated region. Analysis of the duplication allowed us to dissect the X-Y homologous region physically at Xq21 and to refine the assignments of the loci for DXYS5, DXYS12, DXYS13, DXS94, DXS95, DXS96, DXS111, and DXS211. Furthermore, we demonstrated the presence of two different DXYS13 and DXS17 alleles in genomic DNA of our patient, suggesting that the duplication resulted from a meiotic recombination event involving the two maternal X chromosomes.

Abnormalities, Multiple↗
PubMed1987

[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome].

A syndrome which consists of growth retardation, mental deficiency, preaxial polydactyly and colobomatous anomalies was observed in two sibs and might have been transmitted by an autosomal recessive mutation. In the brother there is an incomplete coloboma of the optic nerve head, in the sister a coloboma of the iris, optic nerve head, choroid, and retina. Polydactyly is unilateral. Similar observations have been quoted but no identical case seems to have been published.

Adolescent↗
PubMed1987

[Genetic counseling and prenatal diagnosis: from where, to where? A personal commentary].

In cases of genetic risks genetic counseling as an important support in decision making has developed from specific information transfer to a kind of client centered therapy. The progress in prenatal diagnosis and the possibility of replacing risk with security is about to debase the rationale of genetic counseling. No more the conscientious preparation and acceptance of family planning and a pregnancy at risk but the decision for or against the child is to be expected.

Abortion, Eugenic↗
PubMed1987

[Partial trisomy 1 (1q31-41) caused by intrachromosomal insertion in 1p31.3 in a newborn infant and a sister of the mother].

Insertions of chromosomal material which are due to 3 breaks are rare events. In this observation a segment of the long arm of chromosome 1q31-41 was shifted to 1p31.3 on the short arm and after recombination had caused trisomy of this segment in 2 cases. Main phenotypical feature is colobomatous microphthalmia. Other traits in which both patients differ considerably are non specific. Any correlation between duplications of the long arm of chromosome 1 and phenotypical expression has not yet been recognized.

Abnormalities, Multiple↗
PubMed1986

A family with Huntington disease and reciprocal translocation 4;5.

We report the clinical and cytogenetic findings in a family in which a balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 5 is segregating together with Huntington disease in 2 generations. In situ hybridization studies revealed that the linked human DNA marker is located on the short arm of the normal and translocated chromosome 4 in the region 4p16. The association between Huntington disease and the translocation in this family may represent a chance occurrence. However, it is also possible that there is an undetected rearrangement of DNA on chromosome 4 involving the gene for Huntington disease but not affecting the site of the linked marker. Finally, the likelihood that this represents heterogeneity cannot be excluded.

Adult↗
PubMed1986

Pericentric inversions of the X chromosome. A new observation and review of the published cases.

A pericentric inversion of the X chromosome-inv(X) (p11.3q22) is transmitted in 3 generations. Male and female carriers are normal. The proposita is tetraplegic, severely retarded and suffers from general seizures. Grand mal seizures are known in the mother and grandmother. Different proportions of inactive X chromosomes in the proposita and the normal sister are discussed. The published cases of inv(X) are reviewed.

Child↗