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Biomedical subjects

K Zerres

Publications and source records attributed to K Zerres.

At least 163 records · Page 9Linked to original sources
PubMed1989

Duplication 7p de novo and literature review.

We report on a boy with duplication of the short arm of chromosome 7 (karyotype 46,XY, dup (7) (p11.2----pter), QFQ, GTG, RBA). The boy showed delayed closure of fontanels, reduced eyebrows, short nose with low and broad nasal bridge, small upper and prominent full lower lips, severe delay of speech development. Comparison with the phenotype of 15 reported cases from the literature in relation to the extent of the duplicated segment did not show a clear phenotype/karyotype correlation.

Abnormalities, Multiple↗
PubMed1988

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sonographic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.

Amniotic Fluid↗
PubMed1988

Prenatal diagnosis and management in fetuses with cystic hygromata colli.

We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.

Adult↗
PubMed1988

[Trisomy 22--prenatal findings in various developmental stages].

Four cases of trisomy 22 in different stages of pregnancy are reported, one of them showing a mosaicism. The diagnosis was made in three of the observations during the first trimenon, in one in the third trimenon. A typical pattern of malformations of developmental retardation could be demonstrated in the embryonic as well as in the extraembryonic tissues. Our findings confirm the different frequency of the single chromosome abnormality in the various stages of development in pregnancy.

Abnormalities, Multiple↗
PubMed1988

Hydrops fetalis as an indication for prenatal chromosome analysis with the example of the diagnosis of a duplication 15q11 and 17q25 due to a familial translocation 15/17.

A child with a combined trisomy 15q11 and 17q25 shows the typical phenotype of partial duplication 17q. The male fetus developed in the 3rd trimenon of pregnancy a nonimmune hydrops fetalis (NIHF). Analysing the chromosomes of 54 cases with NIHF during the 2nd and 3rd trimenon and after birth we found chromosomal abnormalities in 33% of them.

Cells, Cultured↗
PubMed1987

Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.

Linkage analysis has been carried out in 11 kindreds with autosomal recessive polycystic kidney disease (ARPKD) using the genetic marker 3'HVR, closely linked (theta = 0.05) to the gene of the autosomal dominant type. Close linkage (theta less than or equal to 0.20) between the locus of the marker and that of ARPKD can be excluded. These data strongly suggest that the loci for the autosomal recessive and dominant forms of polycystic kidney disease are not allelic.

Alleles↗
PubMed1987

Genetics of cystic kidney diseases. Criteria for classification and genetic counselling.

Despite the high incidence of cystic kidney diseases, affected families are not usually well informed of the inheritance of these disorders. Genetic counselling must be based on precise diagnostic criteria. Detailed information on the different types of cystic kidney disease is summarized, including clinical features, pathology, radiology, prenatal diagnosis and the risk of recurrence. In addition, a genetic interpretation is given of the Caroli syndrome, Potter sequence as well as congenital hepatic fibrosis.

Genetic Counseling↗
PubMed1987

Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.

The case of a neonate with clinical symptoms of DiGeorge syndrome is reported. During pregnancy the measurements by ultrasonography revealed already a significant growth retardation of the fetus, for the first time obvious in the 20th week. The child died immediately after birth. A de novo translocation X/22 was observed with the translocation chromosome being late replicating in all mitoses analysed. The own observation is discussed regarding other cases with DiGeorge syndrome and taking the differential diagnoses into account. count.

Adult↗
PubMed1986

Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe.

A highly polymorphic DNA probe genetically linked to the locus of autosomal dominant polycystic kidney disease was used in linkage studies for prenatal diagnosis in a nine-week fetus at risk for the disease. The fetus was judged to have inherited the polycystic kidney disease mutation, and this was confirmed by microscopic examination of the fetal kidneys at necropsy.

Abortion, Therapeutic↗
PubMed1985

Acquired cystic kidney disease--a possible pitfall in genetic counseling.

A case of a 24-year-old pregnant woman on dialysis who asked for genetic counseling is reported. Differentiation between nonheritable acquired cystic kidneys and autosomal dominant polycystic kidney disease without noninvasive diagnostic procedure was nearly impossible in the reported woman. The communication underlines the problem and gives diagnostic criteria.

Adult↗