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Biomedical subjects

S Stengel-Rutkowski

Publications and source records attributed to S Stengel-Rutkowski.

At least 19 recordsLinked to original sources
PubMed2005

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.

Abnormalities, Multiple↗
PubMed2005

Abilities and needs of children with genetic syndromes.

Children with unbalanced karyotypes or other genetic syndromes are generally supposed to be developmentally retarded and mentally handicapped. This has to be ascribed to defect oriented views, leading to negative valuations of their unusual physical condition including slow motor development. A new dialogue oriented view and working concept is presented. It accepts physical differences as biological facts, which primarily do not restrict brainpower. The development of intelligence, behaviour and personality depends largely on the environment. Impeding factors should be searched here and eliminated as far as possible with the aim to prevent secondary mental disability after a syndrome diagnosis. In general, children with genetic syndromes are able to understand language. Thus, they can be educated like other children. They should learn to accept rules and limits, answer questions and follow demands. Their communicative tools may be words, gestures, mimics or written language. While physical support has to be given if necessary, their principally open mind needs stimuli according to their chronological age. Normal mental capacities should be expected, unless the opposite is proven.

Child↗
PubMed2000

A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).

In a girl presenting with features of Wolf-Hirschhorn syndrome, cytogenetic and molecular cytogenetic analysis revealed a rearranged chromosome 4 with monosomy of the distal bands 4pter-->4p16.2 and trisomy of the distal bands 4q35.1-->4qter [rec dup(4q)] due to a large, paternal pericentric inversion. In the following two pregnancies, prenatal diagnosis showed the same imbalance in one fetus and a reverse segmental imbalance [rec dup(4p)] in the other. We discuss the recombination risk of the given inversion with respect to the size of the inverted segment and the viability of the recombinants. The high frequency of recombinants in this family and others suggests a high recurrence risk in similar cases with large pericentric inversions comprising almost entire chromosomes.

Abnormalities, Multiple↗
PubMed1999

Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.

In order to get insight in the formation of isochromosomes we analysed different supernumerary euchromatic short arm isochromosomes for the parent and cell stage of origin. After cytogenetic detection and confirmation by fluorescence-in-situ hybridization we performed short tandem repeat typing in a child with i(9p), three with i(12p) and three with i(18p). The extra chromosomes were monocentric in each case, the i(9p) and i(12p) constitutions were found in mosaic with normal cell lines. Our results and those of other groups indicate a strong role of maternal meiosis in isochromosome formation: in one i(8p), 4 out of 5 i(9p), 7 out of 12 i(12p) and 18 out of 23 i(18p) families a maternal meiotic nondisjunction had occurred prior to the centromere misdivision. For chromosome 18, the majority of isochromosomes originated from a maternal meiosis II error (16/18). For the other tetrasomic constitutions the isochromosomes could be delineated from paternal as well as from maternal origin, the short tandem repeat typing patterns being consistent with meiotic or mitotic cell stages of formation. Thus, independently of the chromosomal origin, in the majority of cases with additional euchromatic isochromosomes maternal meiosis nondisjunction is the initial step followed by centromeric misdivision. Postzygotic nondisjunction as suggested previously due to mosaics observed in tetrasomies 9p and 12p seems to be of minor importance. The observed origin of isochromosomes 18 corresponds to that of trisomy 18, where the majority of cases can be delineated from maternal meiosis II errors.

Child↗
PubMed1998

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

Holoprosencephaly (HPE) is the most common structural anomaly of the human brain and is one of the anomalies seen in patients with deletions and duplications of chromosome 13. On the basis of molecular analysis of a series of patients with hemizygous deletions of the long arm of chromosome 13, we have defined a discrete region in band 13q32 where deletion leads to major developmental anomalies (the 13q32 deletion syndrome). This approximately 1-Mb region lies between markers D135136 and D13S147. Patients in which this region is deleted usually have major congenital malformations, including brain anomalies such as HPE or exencephaly, and digital anomalies such as absent thumbs. We now report that human ZIC2 maps to this critical deletion region and that heterozygous mutations in ZIC2 are associated with HPE. Haploinsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients.

Amino Acid Sequence↗
PubMed1997

[Juvenile hyaline fibromatosis].

Juvenile hyaline fibromatosis is a rare autosomal recessive connective tissue disease first described in 1873 by Murray. Major diagnostic criteria are multiple cutaneous tumors and gingival hypertrophy; minor criteria include contractures, osteolytic lesions and a positive family history. After a normal perinatal period at the age of 6 months our 24 year old patient developed gingival hypertrophy. During the first months of life several skin coloured nodules had been noticed on the neck and in the perianal area. At the age of 15 months, these nodules began to appear more rapidly, both spontaneously and posttraumatically. The patient showed normal development, but the lesions progressed. By the age of 15 years, the patient had extensive deformities and was unable to walk and move by himself. Both his sisters and the unrelated parents had no lesions. Essential for the diagnosis are the clinical picture and the histology. Electron microscopy is helpful to support the diagnosis. Defective connective tissue proteins such as chondroitin, collagen and mucopolysaccharides are probably the pathological defect. A therapy is so far unknown.

Adult↗
PubMed1996

Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

We report a de novo supernumerary isochromosome 18p in a child with tetrasomy 18p, analyzed by a straightforward combination of cytogenetic and molecular cytogenetic methods. The diagnostic procedure consisted of standard banding techniques and fluorescence in situ hybridization (FISH) with centromere and library DNA probes for chromosome 18, and 18p-specific FISH probes prepared by chromosome dissesction and in vitro amplification. The maternal origin as well as the most probable cell stages of formation of the supernumerary isochromosome were determined by typing of short sequence repeats (SSRs). The pattern of allelic distribution suggests a nondisjunction during meiosis followed by a centromeric misdivision in an early postzygotic mitosis as the most probable mode of isochromosome 18p formation. The combination of the applied methods represents a powerful tool to investigate the nature and the origin of de novo marker chromosomes.

Alleles↗
PubMed1996

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother.

We present the phenotypic, cytogenetic and molecular findings in two dysmorphic and mentally retarded brothers with disomy Xq12-->q13.3. The mother and the grandmother carry the same rearrangement of the X chromosome, which was interpreted as an inverted insertion of the segment (X)(q12-->q13.3) into Xq21.2. The X-inactivation-specific-transcript (XIST) is expressed in the probands mother but is absent in her son, confirming the hypothesis that X inactivation is realized only if two X inactivation centers reside on different X-chromosomes (trans-configuration). In the phenotypically normal mother the aberrant X chromosome was late replicating in all cells, indicating functional monosomy of the constitutional segment trisomy. The phenotype of the brothers is considered to be the consequence of a functional disomy Xq12-->q13.3. The trait combination observed in the brothers was compared with the spectrum of clinical and anthropological traits for proximal Xq disomy in males, elaborated by phenotype analyses of the available literature cases.

Abnormalities, Multiple↗
PubMed1995

Further delineation of the branchio-oculo-facial syndrome.

We review 43 patients (15 new, 28 literature) with the branchio-oculo-facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies. Virtually ubiquitous and possibly pathognomonic are the cervical/infra-auricular skin defects. Much less common are supra-auricular defects occurring as isolated anomalies or with cervical defects. Regardless of location, these lesions may have aplastic, "hemangiomatous," or otherwise abnormal overlying skin, and draining sinus fistulae. Renal malformations are frequent, but congenital heart and central nervous system defects are rare. Psychomotor performance is usually normal, but development delays, hypotonia, and visual, hearing, and speech problems are common. Autosomal dominant inheritance seems likely. Overlap between the BOF and branchio-otorenal syndromes has been observed, but elucidation of its molecular basis is not yet available. This article also discusses 5 patients with atypical manifestations considered to be possibly affected or probably unaffected, who are sufficiently unusual to be excluded from the final data analysis.

Abnormalities, Multiple↗
PubMed1995

Mulibrey nanism.

Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).

Child, Preschool↗
PubMed1994

Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: experiences with dysmorphic syndromes.

The paper describes an application of cognitive theories of Tversky and Rosch to prototype similarity of dysmorphic syndromes cases. The knowledge-based system supports diagnostic consultation and research in dysmorphic syndromes. It has been used routinely for many years. The knowledge base is semi-automatically generated from known cases of an outpatient clinic. Some results of the evaluation process of the system's achievements are shown. General conclusions based on the experience with this successful system are discussed.

Artificial Intelligence↗
PubMed1993

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.

We present 12 children with typical Brachmann-de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months. Newborn infants with congenital diaphragmatic hernia should be examined carefully for evidence of the Brachmann-de Lange syndrome because diagnosis of this condition may influence their clinical management and prognosis.

De Lange Syndrome↗
PubMed1993

Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)

Congenital hypertrichosis universalis is a rare autosomal dominant disease. We report the further development of a Greek girl, now aged 3 years, the first case associated with a balanced structural chromosomal aberration. She was described as a neonate by Sigalas et al. (1990). Her persistent generalized hypertrichosis is most excessive on the face, ears and shoulders. Her fine silky hair is of the vellus, not the lanugo type. The syndrome features are characterized, referring to nine further published case reports. It is distinguished from other types of congenital hypertrichoses, which have been described in the literature under different synonyms. To avoid confusion in the terminology, we propose to name this type of hypertrichosis Ambras syndrome in reference to the first documented family with congenital hypertrichosis universalis in the 16th century.

Child, Preschool↗
PubMed1993

The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype.

Fragile-X and Sotos phenotypes may be difficult to distinguish. This is illustrated with a case report. Computer assisted phenotype analyses (MDDB), using the complete trait list of this patient, suggested the fragile-X diagnosis, which later was confirmed by molecular techniques. The results of corresponding phenotype analyses are summarized for 17 children with proven fragile-X, and 10 children with suggested Sotos syndrome.

Child↗
PubMed1992

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Partial trisomy 8qter-->q23 or q24.1 has been reported in 15 literature cases. We add two further case reports here. Patient 1 inherited the derivative (2) of a balanced maternal reciprocal translocation t(2;8)(qter;q2300) after 2:2 disjunction and adjacent-1 segregation, and is trisomic for the segment 8qter-->q2300. Patient 2 inherited a recombinant (8) of a balanced maternal inverted insertion inv ins(8)(q1300;q2300q24.2) and is trisomic for the segment 8q24.2-->q2300. The phenotype of both patients is described and compared to the spectrum of symptoms established from the 15 literature cases. This spectrum contains all features observed with a frequency of > = 50%. Patient 1 had 35% of the features of this spectrum; Patient 2 had 47%. The intrauterine survival probability of unbalanced offspring is assumed to be the same in both cases, as nearly the same segments are trisomic. The pedigrees indicate that the inversion carrier may have a reduced production probability of unbalanced gametes and therefore a reduced risk compared to the translocation carrier.

Abnormalities, Multiple↗