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R A Pfeiffer

Publications and source records attributed to R A Pfeiffer.

At least 127 records · Page 7Linked to original sources
PubMed1982

Present nosology of the Cenani-Lenz type of syndactyly.

Synostoses of the carpals and metacarpals with oligodactyly were noted in a man whose brother was similarly affected. Since the proband's two children are normal, autosomal recessive transmission is probable. Although abnormalities of the feet, and particularly radioulnar synostosis, are lacking, this malformation is comparable to the Cenani-Lenz type of syndactyly. Interfamilial variations of published cases suggest subdivision of a new nosologic group.

Adult↗
PubMed1982

[Oligodactyly].

Explore the source record for details and available documents.

Child↗
PubMed1980

[Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl)].

Postaxial polydactyly represents an important manifestation of distal (partial) trisomy 13. We report on 2 patients with different chromosomal aberrations who share also mental deficiency, abnormal EEG, moderate dilatation of the 3rd ventricle and craniofacial dysmorphy.

Abnormalities, Multiple↗
PubMed1980

Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

A t(X;Y)(p223;q11) was studied in a mother and son who share features of Turner's syndrome (short stature, mild brachymesomelia, unusual dermatoglyphics) as well as mental deficiency. In the majority of the mother's cells the extra chromosome is late replicating. Ten previous cases are summarized, and the significance of Xp deletions is discussed.

Adult↗
PubMed1980

Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome.

Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within the cerebellar white matter. The coexistence of overdeveloped and remaining fetal structures is emphasized. Several hypotheses regarding cerebellar dysgenesis are discussed.

Brain↗
PubMed1979

Cytological analyses of 14p+ variant by means of N-banding and combinations of silver staining and chromosome bandings.

An inherited human karyological variant (14p+) has been studied with a number of cytochemical techniques. The short arm of this variant chromosome 14 is nearly as long as the long arm, giving the chromosome a submetacentric to metacentric appearance. In conventionally Giemsa-stained preparations, maximum of three secondary constrictions can be observed the marker arm. The secondary constrictions are silver-positive in Ag-NOR preparations. However, the entire arm stains deeply in N-banded preparations. The 14p+ arm is also Q-negative, C-negative, G-negative, and R-positive with an almost homogeneous texture. The difference between N-banding and silver staining is interpreted as the result of gene activities of the ribosomal cistrons.

Azure Stains↗