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K Zerres

Publications and source records attributed to K Zerres.

At least 145 records · Page 8Linked to original sources
PubMed1992

Linkage analysis of spinal muscular atrophy.

Linkage data between four markers on chromosome 5 confirm and extend our previous studies that localized the mutation in spinal muscular atrophy to 5q11.2-q13.3. Localization of D5S6 by in situ hybridization refines the mapping of the defective gene to the region 5q12.2-q13. We also report the use of a highly informative PCR-based polymorphism with five alleles. This RFLP will be particularly useful for prenatal diagnosis where only old tissue samples from affected individuals are available. The high heterozygosity of this locus should also assist in identifying recombinants that will refine the genetic mapping of the mutation.

Chromosome Mapping↗
PubMed1991

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

Abnormalities, Multiple↗
PubMed1991

MASA syndrome: clinical variability and linkage analysis.

We report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). One patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs. The described family underlines the clinical variability in MASA syndrome. DNA studies confirm linkage to DNA markers of the Xq28 region. Analysis of published cases with hereditary spastic paraplegia (HSP), where linkage studies have been carried out, emphasizes the clinical variability in MASA syndrome and other types of HSP, thus making a definite diagnosis in single cases often impossible.

Aphasia↗
PubMed1990

Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease.

Congenital hepatic fibrosis was found in four families with autosomal-dominant polycystic kidney disease. Congenital hepatic fibrosis is commonly though to be characteristic for autosomal-recessive polycystic kidney disease, but the reported families, show that it can also complicate autosomal-dominant polycystic kidney disease. In three families close linkage between the mutation causing the disease and DNA markers on chromosome 16 was demonstrated. The clinical course of the congenital hepatic fibrosis differed considerably; in one family the children with congenital hepatic fibrosis died soon after birth, in the three other families an approximately 20 years follow-up showed no detectable progression of the liver disease.

Adult↗
PubMed1990

[Pregnancy in Crohn disease and ulcerative colitis. Maternal and fetal risks].

Familial occurrence in chronic inflammatory bowel disease is well established. Recurrence risks for first degree relatives range from 1 to 5%. A pregnancy is usually not negatively influenced by the disease. The risks for miscarriages are slightly increased, if conception takes place during periods of inflammatory activity. In the case of first manifestation during pregnancy, however, mother and child are exposed to increased risks. The course of the disease is usually not negatively influenced by pregnancy. The rate of relapse is similar to that of comparable samples without pregnancy. In women with an active disease, the prognosis is considerably poorer. The risk to children as a result of drug therapy can be regarded as low. Family planning, pregnancy and birth entail an increased psychological demand, which, in turn, necessitates specific therapy in some cases.

Colitis, Ulcerative↗
PubMed1990

Prenatal detection of heart defects as an indication for chromosome analysis.

Chromosome investigations were carried out in 588 fetuses with prenatally diagnosed growth retardation and/or congenital malformations. Out of these cases 116 (19.7%) revealed a chromosome disorder. Among the prenatally diagnosed malformations heart defects were detected in 102 fetuses (17.3%) and were therefore one of the most common abnormalities. Within this group of prenatally diagnosed heart defects 41 fetuses (40.2%) had a chromosome disorder, with trisomy 18 and 21 as the most common syndromes. The results of our study demonstrate that heart defects which can be recognized prenatally by ultrasound are caused in about 40% of the cases by a chromosome aberration and that they are therefore always an indication for fetal karyotyping.

Abnormalities, Multiple↗
PubMed1990

Homozygosity of a 6/18 translocation in a hydatidiform mole.

In a complete mole the chromosome investigation revealed a reciprocal translocation 6/18 in a homozygous status. The chromosome polymorphisms of the conceptus could be derived from those of the father. The delineation of the karyotype of the conceptus is discussed. A previous pregnancy of the mother had also led to an abortion of a hydatidiform mole.

Abortion, Spontaneous↗
PubMed1990

[Fetal echocardiography and clinical genetics--a close correlation].

Improving techniques in fetal echocardiography have important implications in the field of clinical genetics. 1) Fetal echocardiography in pregnancies with families with increased recurrence risks for congenital heart disease (CHD): In 473 pregnancies with increased recurrence risks for CHD second-trimester fetal echocardiography was performed. In 11 cases (2.3%) cardiac malformations were present that could be diagnosed in five cases prenatally (hypoplastic left heart, complete atrioventricular canal defect with hypoplastic left ventricle, preductal coarctation of aorta, tetralogy of Fallot, complete atrioventricular canal defect). In six cases the prenatal diagnosis could not be performed (total anomalous pulmonary venous connection [one case], secundum atrial septal defect [two cases], ventricular septal defect [three cases]). The recurrence risk in families with one previously affected child was 1.4% (5/364), and 17.6% (3/17) in families with two previously affected children. In two out of 44 cases with one affected parent a CHD could be diagnosed, in both cases one previous child was already affected. 2) Congenital heart defect as a common symptom in malformation syndromes: CHD is common as a symptom in malformation syndromes. The demonstration of a fetal CHD can lead to diagnosis of a complex malformation syndrome and it is integral in prenatal diagnosis in cases with increased recurrence risks for a complex malformation syndrome. The sonographic diagnosis of a CHD may signal associated chromosomal disorders. Between January 1986 and December 1988 in 433 cases with prenatally diagnosed congenital malformation and/or severe fetal growth retardation a prenatal chromosome analysis was performed. Within this group 77 fetuses demonstrated a CHD and 28 (36%) out of these revealed a chromosomal disorder. The genetic basis of CHD, the most common complex syndromes with CHD, and the principles of genetic counseling in families with CHD are summarized.

Chromosome Aberrations↗
PubMed1989

Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli.

Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.

Chromosome Aberrations↗
PubMed1989

Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.

Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alpha-globin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (theta max = 0.09 at zmax = 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset.

Child↗