W. Fuhrmann

Autosomal dominante Vererbung von Gaumenspalte und Synechien zwischen Gaumen und Mundboden oder Zunge

SummaryCleft palate combined with multiple, mostly symmetric cordlike adhesions between the free borders of the palate and lateral parts oft the tongue and the floor of the mouth has been observed in 5 (when including a man with incomplete manifestation, 6) members of a family. In addition a moderate hypoplasia of the mandible and the tongue, and a relative short upper lip have been observed. No other associated gross malformations have been found. The distribution of affected persons within the pedigree suggests autosomal dominant inheritance. The anomaly is to be distinguished from the ankyloglosson-superius-syndrome and from connatal syngathia. As a short hand designation is proposed: “Cleft Palate Lateral Synechia-Syndrome (CPLS-Syndrome)”.ZusammenfassungEine bisher nicht beschriebene Form der Kombination einer Gaumenspllte mit zahlreichen, meist symmetrischen, strangförmigen Verwachsungen zwischen den Rändern der Spalte und seitlichen Partien der Zunge sowie dem Mundboden in der Gegend der Glandula sublingualis wurde bei 5 (bei Einschluß eines Mannes mit inkompletter Ausprägung, 6) Mitgliedern einer Familie beobachtet. Zusätzliche Kennzeichen waren eine mäßige Hypoplasie des Unterkiefers und der Zunge sowie eine relativ kurze Oberlippe. Es bestanden keine weiteren begleitmißbildungen. Die Verteilung der Probanden im Stammbaum spricht für autosomaldominanten Erbgang. Die Anomalie ist eindeutig gegenüber dem Ankyloglosson superius-Syndrom und der konnatalen Syngnathie abzugrenzen. Als englische Kurzbezeichnung wird der Terminus “Cleft Palate Lateral Synechia-Syndrome” vorgeschlagen.

Epidemiology of neural tube defects in Germany

SummaryA survey is made of the epidemiologic studies of neural tube defects (NTD) in Germany. A temporary increase is noted in the prevalence of NTD at birth for the time during and shortly after the Second World War, followed by a downward trend thereafter. Thus an earlier observation of Lenz (1965) could be confirmed. Falling rates of NTD were also reported from various other countries in recent years. No convincing etiological explanation is available so far. The current prevalence of NTD at birth can be estimated for Germany to be about 1.0–1.5 per thousand newborns with about an even distribution to anencephalus and spina bifida.

A cytogenetic study of recurrent abortion

SummaryChromosomal analysis was performed in a series of 27 women with repeated spontaneous abortions and in 16 of the husbands. In one woman a balanced translocation of the type 13q/15q was detected, and a pericentric inversion of a chromosome A1 was found in the husband of another proband. The significance of these findings is discussed.ZusammenfassungBei 27 Frauen mit wiederholten Aborten und bei 16 zugehörigen Ehemännern wurden Chromosomenanalysen durchgeführt. Bei einer Probandin fand sich eine balancierte Translokation 13q/15q, bei dem Ehemann einer anderen Probandin eine perizentrische Inversion eines Chromosoms A1. Die Bedeutung der Befunde wird diskutiert.

Red cell enzymes of the Pongidae

SummaryThe red cell enzymes acid phosphatase, adenylate kinase, adenosine deaminase and phosphoglucomutase were analyzed by horizontal starch gel electrophoresis in 43 members of the family Pongidae: Pongo pygmaeus (n=10), Gorilla g. gorilla (n=8), Pan troglodytes (n=22) and Pan paniscus (n=3).In all the Pongidae a red cell acid phosphatase zymogram corresponding to the phenotype B in man was found. The adenylate kinase corresponded to the human phenotype AK 1. All the Pongidae showed the same homozygous adenosine deaminase phenotype which was different from the zymograms in man and was designated ADA ape. In all Pongidae the allele PGM11 was present, in addition in Gorilla g. gorilla a second allele was demonstrated, PGM1Go. In Pan troglodytes a second allele, PGM1Pan was recognized. In Pongo pygmaeus and Gorilla g. gorilla the PGM2 patterns differed in their migration rates from PGM2 1 in man. In one individual of the species Pan troglodytes a PGM2 zymogram was found resembling the heterozygous phenotype PGM2 3–1, PGM21PGM23, (type “Palmer”) in man. In all the other individuals of the species Pan troglodytes and in those of the species Pan paniscus the PGM2 zymogram corresponded to the phenotype PGM2 1 in man.ZusammenfassungBei 43 Vertretern der Familie Pongidae, Pongo pygmaeus (n=10), Gorilla g. gorilla (n=8), Pan troglodytes (n=22) und Pan paniscus (n=3), wurden die Erythrocytenenzyme saure Phosphatase, Adenylatkinase, Adenosindeaminase und Phosphoglucomutase mit der horizontalen Stärkegelelektrophorese analysiert. Bei allen Pongiden fanden wir eine saure Phosphatase, die dem Phänotyp B des Menschen entsprach, und eine Adenylatkinase, die dem Phänotyp AK 1 des Menschen glich. Alle Pongiden besaßen das gleiche, einem homozygoten Phänotyp entsprechende Adenosindeaminase-Zymogramm, das sich von den Zymogrammen des Menschen unterschied; wir bezeichnen diesen Phänotyp mit ADA ape. Bei allen Pongiden kommt das Allel PGM11 vor, bei Gorilla g. gorilla zusätzlich ein zweites Allel, PGM1Go, und bei Pan troglodytes ein zweites Allel, PGM1Pan. Die PGM2-Zymogramme von Pongo pygmaeus und Gorilla g. gorilla unterschieden sich in ihrer elektrophoretischen Wandergeschwindigkeit vom Phänotyp PGM2 1 des Menschen. Bei einem Individuum der Species Pan troglodytes fanden wir ein heterozygotes PGM2-Zymogramm, das an den heterozygoten Phänotyp PGM2 3–1, PGM21PGM23 (Typ “Palmer”) des Menschen erinnerte, bei allen übrigen Individuen der Species Pan troglodytes und bei denen der Species Pan paniscus ein homozygotes PGM2-Zymogramm, das dem Phänotyp PGM2 1 des Menschen entsprach.

Apparently monogenic inheritance of anencephaly and spina bifida in a kindred

SummaryAnencephaly and/or spina bifida has been observed in 5 of 8 children from 2 related families. The fathers of both families were brothers and had married 2 sisters. By further investigation they could be shown to be third degree cousins to their marriage partners. No malformations were known among further relatives. The family pattern suggests autosomal recessive inheritance of anencephalus and/or spina bifida in this family, although it could not be excluded, that genetically determined intrauterine factors were of importance.ZusammenfassungIn 2 verwandten Familien einer Sippe hatten 5 von 8 Kindern Anencephalie und/oder Meningocele. Die Väter beider Familien waren Brüder, die Mütter Schwestern. Das Studium der Kirchenbücher ergab, daß die Ehepartner außerdem Vettern und Basen dritten Grades waren. Weder den Eltern noch dem Hausarzt waren bei weiteren Verwandten Fehlbildungen ähnlicher oder anderer Art bekannt. Der Stammbaum macht autosomal-recessiven Erbgang der Schulßstörung des Neuralrohres in dieser Familie sehr wahrscheinlich, es kann jedoch nicht mit voller Sicherheit ausgeschlossen werden, daß erblich bedingte intrauterine Faktoren entscheidend waren.

Feto-maternal transfusion after chorionic villus sampling

SummaryThe alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the AFP concentration in maternal serum was correlated with the weight of the tissue sample but not with the number of sampling attempts. A correlation of AFP increase and frequency of spontaneous abortions following CVS was suggested only in the group with an AFP increase of more than 100% or with a continuing rise in the first hour following CVS. CVS in early pregnancy obviously did not interfere with maternal serum AFP screening for neural tube defects in the second trimester. Although AFP measurement before and after CVS seems to have no immediate diagnostic application, in the research phase of CVS it may help to identify those procedures that are the least traumatic.

Geographic and ethnic distribution of some red cell enzymes

SummaryIn the literature widely scattered data on the gene frequency of the 4 polymorphic red cell enzyme systems adenosine deaminase (ADA), adenylate kinase (AK), phosphoglucomutase (PGM1), acid phosphatase (AP) have been compiled. In addition the results of another German sample, taken from the population around Gießen, are given. Certain trends in the distribution are discussed.ZusammenfassungDie in der Literatur weit verstreuten Daten über die ethnische und geographische Verteilung der Allele in den 4 polymorphen Erythrocytensystemen Adenosindeaminase (ADA), Adenylatkinase (AK), Phosphoglucomutase (PGM1), saure Phosphatase (AP) wurden gesammelt. Zusätzlich werden eigene Ergebnisse an einer Stichprobe aus Deutschland (Raum Gießen) mitgeteilt. Erkennbare Besonderheiten der Häufigkeitsverteilung werden diskutiert.

Familial basal cell nevus syndrome

SummaryThe basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.

Sibs of probands with neural tube defects A study in the Federal Republic of Germany

SummaryData for the risk of neural tube defects in sibs of affected children are needed for genetic counselling, for decision on prenatal studies, and for planning of preventive measures. Data have been reported from various populations but were lacking for Germany. This study presents data on the siblings of 240 index patients in the Western part of the Federal Republic of Germany. The prevalence among sibs of affected individuals was found to be 2.6%. This figure agrees well with reports from other countries in Continental Europe and the United States, and fits the expectation of lower recurrence risks in low incidence populations.

Maternal serum alpha-fetoprotein screening for neural tube defects

SummaryThe basis of maternal serum alpha-fetoprotein (AFP)-screening for neural tube defects is discussed. A report is given of a large scale screening study in the Federal Republic of Germany combining the experiences in Giessen and Hannover on over 50,000 pregnant women, about evently distributed among both centers. Published and known forthcoming data from other low incidence populations, particularly of European countries, are reviewed briefly. The conclusion is reached that general screening could effectively be instituted and in the final result should also be cost-beneficial.