Zobrazeno 1 - 10
of 210
pro vyhledávání: '"S. Stengel-Rutkowski"'
Publikováno v:
Iranian Journal of Public Health, Vol 30, Iss 1-2, Pp 61-66 (2001)
The photoanthropometric method was used to study the facial features in 136 Iranian children with Down syndrome, aged 4 to 14 years. Nineteen parameters were investigated and compared to an age related control group of 100 normal Iranian children. Th
Externí odkaz:
https://doaj.org/article/438210ff41bd4d508d471957f6f79634
Autor:
Tim M. Strom, Maja Hempel, S. Stengel-Rutkowski, Núria Rivera-Brugués, Thomas Meitinger, Anna Jauch, Konrad Oexle
Publikováno v:
European Journal of Medical Genetics. 54:225-230
In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752
Autor:
A. Albert, S. Stengel-Rutkowski, Jérôme Couturier, K. Lohse, C. Apacik, Christian Herzog, B. Belohradsky
Publikováno v:
Clinical Genetics. 42:178-185
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 a
Publikováno v:
ResearcherID
The risk estimates for individual carriers of ten different familial reciprocal translocations detected among 500 couples with reproductive failures are presented. These were established by application of the empirical data analysed by Stengel-Rutkow
Publikováno v:
Clinical Genetics. 44:121-128
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 neona
Autor:
A, Rodewald, S, Stengel-Rutkowski
Publikováno v:
Clinical Genetics. 14:330-337
Dermatoglyphic findings are reported for six members of a family in which two patients have partial trisomy for the short arm of chromosome 10(p13 leads to pter) and there are two unaffected carriers of the balanced translocation t(5;10)(p15;p13). Th
Publikováno v:
Cytogenetic and Genome Research. 91:85-89
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
Publikováno v:
Der Hautarzt. 48:253-257
Die juvenile hyaline Fibromatose ist eine sehr seltene erstmals 1873 von Murray beschriebene Bindegewebserkrankung mit autosomal rezessivem Erbgang. Diagnostische Hauptkriterien sind das Auftreten von multiplen kutanen Tumoren und Gingivahypertrophie
Autor:
Engelhardt Schleiermacher, Thomas Eggermann, Hartmut Engels, Markus M. Nöthen, S. Stengel-Rutkowski, Gesa Schwanitz, Barbara Moskalonek, Jutta Müller-Navia
Publikováno v:
Human Genetics. 97:568-572
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 fluor
Autor:
C.J.A.M. van der Burgt, D.G. Müller, I.V. Naumchik, N.V. Rumyantseva, Peter Meinecke, Han G. Brunner, Iosif W. Lurie, S. Stengel-Rutkowski, Robert J. Gorlin, Kenneth N. Rosenbaum, Angela E. Lin
Publikováno v:
American Journal of Medical Genetics, 56, pp. 42-59
American Journal of Medical Genetics, 56, 42-59
American Journal of Medical Genetics, 56, 1, pp. 42-59
American Journal of Medical Genetics, 56, 42-59
American Journal of Medical Genetics, 56, 1, pp. 42-59
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 possi