Search PubMed⌕ Search

Biomedical subjects

A Schinzel

Publications and source records attributed to A Schinzel.

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

Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation.

A mother who had given birth to a child with Schwartz-Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz-Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures.

Adult↗
PubMed1989

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.

Congenital stationary night blindness is characterized disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the autosomal types in that the former is frequently associated with myopia. X-chromosome-specific polymorphic DNA markers were used to carry out linkage analysis in three European families segregating for CSNBX. Close linkage without recombination was found between the disease locus and the anonymous locus DXS7, mapped to Xp11.3, assigning the mutation to the proximal short arm of the X chromosome. Linkage data obtained with markers flanking DXS7 provided further support for this localization of the gene locus. Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7.

Chromosome Mapping↗
PubMed1989

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

The cytogenetically defined "Down syndrome region" of chromosome 21 has been characterized by DNA analysis in patients with partial trisomy 21 with or without Down syndrome features. Single-copy DNA sequences mapped on chromosome 21 were used to determine copy number by polymorphism and/or dosage analysis in the patients. Given our results, which in some patients were in disagreement with their cytogenetic descriptions, trisomy for locus D21S13 through locus D21S58 is excluded from significant contribution to many Down syndrome features. The minimal chromosome region necessary in triplicate to result in the Down syndrome phenotypes in the patients characterized includes the area from locus D21S55 to locus COL6A1. We could not analyze the region between loci D21S58 and D21S55 and between COL6A1 and 21qter at the molecular level due to a lack of DNA probes and, consequently, the contribution of these areas to a Down syndrome phenotype when present in three copies is unknown. The molecular cloning and mapping of chromosome 21 and the expansion of the patient population studied will likely result in a more precise molecular definition of the Down syndrome region.

Blotting, Southern↗
PubMed1989

[Familial kidney agenesis: renal adysplasia as a cause of urogenital abnormalities in 3 generations].

Ultrasonographic investigations in a family with two members (uncle and niece) with bilateral renal agenesis disclosed various urogenital malformations (pelvic kidney, unilateral renal agenesis, duplication of kidneys and exstrophy of the cloaca). Pedigree and types of malformations found, focused on renal adysplasia, a condition caused by an autosomal dominant gene with incomplete penetrance and a wide range of expression. Carriers of the gene may reveal variable urogenital malformations, including uni- or bilateral renal agenesis of dysplasia, horseshoe kidneys, pelvic kidney and others. Prenatal ultrasonographic diagnosis is essential in pregnancies of potential or established carriers of the gene. In the present family, 2 subsequent pregnancies were subjected to ultrasonographic diagnosis; in one, fetal renal agenesis was detected and confirmed in the subsequently aborted fetus. Fetal ultrasonography with special attention paid to urogenital anomalies is indicated in any pregnancy of an established or potential carrier of the gene for renal adysplasia.

Chromosome Aberrations↗
PubMed1989

The popliteal pterygium syndrome: distinct phenotypic variation in two families.

Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.

Adult↗
PubMed1988

Hyperlaxity in males with Melnick-Needles syndrome.

Here we report on a boy with Melnick-Needles syndrome. He presented extreme hyperlaxity of skin and joints, suggesting that this syndrome is another example of a generalized connective tissue disorder.

Child, Preschool↗
PubMed1988

Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?

We report magnetic resonance imaging (MRI) findings in two obligate and four facultative carriers for the "classical" X-linked form of Pelizaeus-Merzbacher disease (PMD). In T2-weighted images MR revealed bilateral multiple areas with signal hyperintensity in the periventricular and subcortical white matter in five women. Until suitable and closely linked DNA probes are found for heterozygote determination, MRI may represent a suitable means for carrier detection in individuals at risk in PMD families.

Brain↗
PubMed1988

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition, had hypospadias, cryptorchidism, inguinal hernias, duplication with syndactyly of the phalanges of the big toe, and a bipartite right clavicle. The girl had an arachnoidal cyst, a calvarian defect, and digitalisation of the thumbs. Motor and mental development was retarded in both patients. This observation provides further evidence of probable autosomal recessive inheritance of the acrocallosal syndrome and widens the spectrum of clinical findings and the variability of features in this rare malformation syndrome.

Abnormalities, Multiple↗
PubMed1988

Microdeletion syndromes, balanced translocations, and gene mapping.

High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a minority of patients with the Angelman (happy puppet) syndrome; a terminal deletion of 17p13.3 in most patients examined with the Miller-Dieker syndrome; an interstitial deletion of 8q23.3/24.1 in a large majority of patients with the Giedion-Langer syndrome; an interstitial deletion of 11p13 in virtually all patients with the WAGR (Wilms' tumour-aniridia-gonadoblastoma-retardation) syndrome; and an interstitial deletion in 22q11 in about one third of patients with the DiGeorge sequence. In addition, a combination of chromosome prometaphase banding and DNA marker studies has allowed the localisation of the genes for retinoblastoma and for Wilms' tumour and the clarification of both the autosomal recessive nature of the mutation and the possible somatic mutations by which the normal allele can be lost in retina and kidney cells. After a number of X linked genes had been mapped, discrete deletions in the X chromosome were detected by prometaphase banding with specific attention paid to the sites of the gene(s) in males who had from one to up to four different X linked disorders plus mental retardation. Furthermore, the detection of balanced translocations in probands with disorders caused by autosomal dominant or X linked genes has allowed a better insight into the localisation of these genes. In some females with X linked disorders, balanced X; autosomal translocations have allowed the localisation of X linked genes at the breakpoint on the X chromosome. Balanced autosome; autosome translocations segregating with autosomal dominant conditions have provided some clues to the gene location of these conditions. In two conditions, Greig cephalopolysyndactyly and dominant aniridia, two translocation families with one common breakpoint have allowed quite a confident location of the genes at the common breakpoint at 7p13 and 11p13, respectively.

Chromosome Aberrations↗
PubMed1987

[Dominantly inherited lower lip fistulas and facial clefts (Van der Woude syndrome). A study of 52 cases].

Congenital lip pits may occur alone or in combination with oral clefts. They characteristically present as symmetric pits close to the vermilion border of the lower lip, about 0.5 cm off the midline, and are usually connected with heterotopic salivary glands; occasionally, salivation may occur. Congenital lip pits are associated with clefts of the upper lip and/or the palate in about half of the cases. Hypodontia may also be observed. Lip pits with or without clefts are found in a few dominantly inherited syndromes, in most cases involving the autosomal dominant Van der Woude syndrome. 52 carriers of the Van der Woude gene are described. In 8 cases the syndrome occurred as a fresh mutation and the other 44 cases occurred in 5 families. Penetrance was complete and expression very variable. Sex distribution was 1:1. For genetic counselling purposes it can be concluded that all carriers of the Van der Woude gene can be identified. Every symptom (pits, micro-pits, cleft, submucous clefts, uvula bifida) may represent the only manifestation of the gene. The recurrence risks for offspring of gene carriers is 50%, but the risk of severe forms of cleft is much lower.

Adult↗
PubMed1987

Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?

We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.

Abnormalities, Multiple↗