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K Zerres

Publications and source records attributed to K Zerres.

At least 181 records · Page 10Linked to original sources
PubMed1985

Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?

A case of an unusually early manifestation of autosomal dominant polycystic kidney disease (ADPKD) is reported that was prenatally diagnosed by ultrasound. The ultrasonographic picture showed greatly enlarged kidneys and increased echogenicity that was indistinguishable from cases of autosomal recessive polycystic kidney disease or Meckel syndrome without further information. Because of two further cases of early manifestation of ADPKD within the family reported (brother and cousin), as well as several other "familial" cases reported in the literature, we postulate that genetic factors are involved (modifying alleles). When reported observations of "familial" cases of early manifestations of ADPKD are made, genetic counseling should be considered.

Female↗
PubMed1984

Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

According to the classification of Osathanondh and Potter of cystic kidneys we give an overview of the different types of cystic changes taking genetic aspects into account. Usually pathoanatomic types do not represent genetic entities: All type I kidneys are transmitted in an autosomal recessive way with varying clinical symptoms; in rare cases they even present in adults. The relationship to "congenital hepatic fibrosis", "cystic liver", and to the "Caroli syndrome" is discussed. Type II kidneys are usually not genetic in origin; but they may occur as part of several syndromes. Rarely genetic factors might contribute to type II kidneys that may present as familial cases of Potter syndrome ("renal non-function syndrome"). Type IV kidneys, although different in their pathoanatomic picture can be regarded according to a common pathogenetic theory as part of the spectrum of malformations as in type II. Therefore the genetic interpretation of type II kidneys also applies to type IV lesions. Type III kidneys include autosomal dominant polycystic kidney disease. This type may already present in childhood; the first prenatal diagnosis by ultrasonography is described in detail. Furthermore type III changes are part of syndromes or non-hereditary malformation complexes, and often present only as mild manifestations. Diseases with isolated involvement of the medulla (juvenile nephronophthisis/medullary cystic disease) or cortex are described as part of the differential diagnosis, they are heterogeneous and genetically only partly understood. Syndromes with cystic kidneys are reviewed as well as the possibilities of prenatal diagnosis of cystic diseases. Reliable prenatal diagnosis is only possible in type II, and possible in some of the other types. The nosology is improved if genetic information is taken into account.

Female↗
PubMed1984

[Prenatal diagnosis of thanatophoric dwarfism with a cloverleaf skull--ultrasonographic findings, humane genetic aspects].

The ultrasonographic criteria for the prenatal diagnosis of thanatophore dwarfism with clover leaf skull are described. Facultative morbid anatomical peculiarities are described. Because of the prenatal findings the pregnancy was terminated by Caesarean Section at 30 weeks gestation in our case. Following the death of the infant the diagnosis was confirmed by radiological investigations and by autopsy. The ultrasonographic differential diagnosis from other types of dwarfism is discussed. The human genetic aspects are discussed with emphasis on the counselling regarding further pregnancies.

Abnormalities, Multiple↗
PubMed1984

[Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5].

A family is described with a translocation 3/5 in three generations. Four patients showed the typical symptoms of partial trisomy 3p; for 2 of them a chromosome analysis was possible. Different main symptoms could be demonstrated for the different age-groups. The difficulties in analysing familial translocations and the problems in genetic counseling are discussed.

Adolescent↗
PubMedDate not supplied

Mosaicism of isochromosome 18p. Cytogenetic and morphological findings in a male fetus at 21 weeks.

The first case of isochromosome 18p as a mosaic in a male fetus diagnosed by amniocentesis is reported. After termination of the pregnancy at 21 weeks gestation biopsies from different fetal organs as well as from the placenta were taken and set up for long term cell cultures. The distribution of the normal and abnormal cell-line in fetal organs was unequal. Unexpectedly the metaphases in the placenta and the lymphocyte culture all showed a normal karyotype. The tetrasomy 18p is associated with a uniform phenotype, even in fetal life, characterized by a small head with protuberant occiput, low-set ears with posterior rotation, epicanthic fold, sharp pinched nose, convex and poorly formed philtrum, high-arched palate, retrognathia, flexion contractures of fingers, short and broad hallux, hypoplastic penis, angulation of clavicles and mild scoliosis. The propositus showed no growth retardation.

Adult↗
PubMedDate not supplied

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

Paternal uniparental disomy (UPD) of chromosome 6 has been reported several times in patients with (transient) neonatal diabetes mellitus ((T)NDM). Here we present our short tandem repeat typing results in a new patient with NDM, revealing a paternal isodisomy (UPiD). Summarising these data with those published previously on complete paternal (n=13) and maternal (n=2) UPD6, all cases show isodisomy. In general, several modes of UPD formation have been suggested: While a meiotic origin of UPD mainly results in a uniparental heterodisomy (UPhD), UPiD is probably the result of a post-zygotic mitotic error. This mode of formation consists of a mitotic nondisjunction in a disomic zygote, followed by either a trisomic rescue or a reduplication. Endoduplication in a monosomic zygote is another possible but less probable mechanism, taking into consideration that monosomic zygotes are not viable. The exclusive finding of isodisomy in case of chromosome 6 therefore gives strong evidence that segregational errors of this chromosome are mainly influenced by postzygotic factors. This hypothesis is supported by the observation of two cases with partial paternal UPiD6 originating from mitotic recombination events. The influence of mitotic segregational errors in UPD6 formation is in agreement with the results in trisomy/UPD of other chromosomes of the C group (7 and 8), and is in remarkable contrast to the findings in studies on the origin of the frequent aneuploidies. Multiple factors ensure normal segregation and we speculate that they vary in importance for each chromosome.

Chromosome Aberrations↗
PubMedDate not supplied

[Genetic aspects of Crohn disease and ulcerative colitis. Empirical risk of recurrence and case presentation].

During the last decades Morbus Crohn and ulcerative Colitis, both chronic inflammatory bowel diseases, show increasing incidence rates. The etiology of the diseases remains unclear. The well known familial occurrence of these diseases will create an increasing demand for medical, psychological and genetic counselling in face of the increasing incidence. The recurrence risks for close relatives will be presented and discussed. An example of Crohn's disease in two twin-siblings illustrates the familial occurrence and underlines the usefulness of being aware of possible recurrence in close relatives.

Child↗
PubMedDate not supplied

[Johanson-Blizzard syndrome].

Johanson-Blizzard syndrome (JBS) is an autosomal recessively inherited disorder that is characterized by pancreatic insufficiency, a distinct appearance with hypo- or aplasia of the alae nasi and dental anomalies. We report on 3 patients with JBS who demonstrate the clinical variability of additional symptoms. In contrast to the common mental retardation in JBS we stress the outstanding intellectual abilities of one patient. It is important to realize the treatable dysfunctions in JBS. Specific therapy of e.g. pancreatic insufficiency and hypothyroidism can lead to a marked improvement of the clinical course. For the first time we discuss a possible sex influence. There is evidence that females have a better prognosis. The literature is reviewed, and aspects of differential diagnosis of JBS are considered.

Abnormalities, Multiple↗
PubMedDate not supplied

[7-week-old infant with a hydrolethalus syndrome: case report, differential diagnosis and literature review].

We report on an 7 weeks old male infant with hydrocephalus internus, dysplastic low-set ears, micrognathia, vitium cordis, hypogenitalism, and polyhydramnios in pregnancy. The variability of the Hydrolethalus syndrome will be demonstrated. Our patient shows, that this syndrome is not a lethal in all cases. We report on an 7 weeks old male infant with hydrocephalus internus, dysplastic low-set ears, micrognathia, vitium cordis, hypogenitalism, and polyhydramnios in pregnancy.

Abnormalities, Multiple↗
PubMedDate not supplied

[Non-immunologic hydrops fetalis (NIHF)--case report of double partial trisomy 15q and 17q resulting from familial translocation 15/17 and cytogenetic findings in 50 cases with hydrops fetalis].

We report the first case of non-immune hydrops fetalis (NIHF) with trisomy 15q11/17q22.5 resulting from a familial translocation 15/17. Furthermore the cytogenetic findings of 50 cases with hydrops fetalis are presented. Of the 30 cytogenetic analyzable cases 7 showed chromosomal abnormalities (4x45,X; 2x47,XY,+21; 1x47,XY,+13). In every case of NIHF a chromosomal analysis should be performed if possible from different tissues.

Chromosomes, Human, Pair 15↗
PubMedDate not supplied

[Gonadal dysgenesis--possible variation of clinical, hormonal, cytogenetic and histologic findings].

Errors of gonadal differentiation are influencing the sex differentiation on the whole in man. Since the methods in clinical cytogenetics improved, an exact chromosome investigation became possible, which enables the necessary therapy, the appropriate medical and psychological care, and the genetic counselling. Regarding our own observations, general surveys on the frequencies of the different syndromes and on the occurrence of the single clinical symptoms are given.

Adolescent↗
PubMedDate not supplied

[X-chromosomal recessive hydrocephalus internus: a separate disease picture? 2 further case reports and review of the literature].

Two patients with X-chromosomal hydrocephalus internus (aqueduct stenosis, clasped thumbs, mental retardation and spasticity) habe been described. In both cases the family history revealed further affected relatives. The intra- and interfamilial variability of this rare X-chromosomal recessive disease will be demonstrated. In this context differentialdiagnoses like X-linked MASA syndrome and X-linked spastic paraplegia have been discussed on the basis of a variable expressivity of different mutations in the same gene.

Abnormalities, Multiple↗
PubMedDate not supplied

[Indirect genotype analysis in 2 families with early manifestation of autosome dominant polycystic nephropathy].

Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest dominantly inherited disease with an estimated incidence of 1 in 1000. In the majority of cases the ADPKD gene locus is linked to chromosome 16p13.3-markers (PKD1). It has been estimated that approximately 2 percent of PKD1 gene carriers already present with severe clinical manifestation in childhood. In two families with early manifestation of ADPKD, DNA studies with markers of chromosome 16p allowed the determination of carrier status. A preclinical (predictive) DNA analysis of possible PKD gene carriers in childhood should not be performed as a routine examination. However, children of PKD gene carriers should be examined by pediatric nephrologists in order to allow early treatment of possible complications.

Child, Preschool↗