Research Topics
| P StankiewiczSummaryAffiliation: Instytut Matki i Dziecka Country: Poland Publications
| Collaborators
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Detail Information
Publications
Cytogenetic and molecular characterization of two isodicentric Y chromosomesP Stankiewicz
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Am J Med Genet 101:20-5. 2001..Possible mechanisms of formation of abnormal Y chromosomes and karyotype-phenotype correlations are discussed...- Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18P Stankiewicz
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Am J Med Genet 101:226-39. 2001..It has been observed that a short neck with absence of cardiac anomalies may be related to the deletion of the 18p material from the r(18) chromosome... 
Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic featuresB Nowakowska
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Am J Med Genet A 146:2361-9. 2008..Additionally, application of both methods together increased the detection rates of genomic imbalances in the tested groups...- Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infectionsM Smyk
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Am J Med Genet B Neuropsychiatr Genet 147:799-806. 2008..Our data confirm previous observations that MECP2 is the most important dosage-sensitive gene responsible for neurologic development in patients with duplications on the distal part of chromosome Xq... - Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the fatherM Smyk
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Am J Med Genet A 143:866-70. 2007..Our findings confirm the utility of aCGH and indicate that for a more accurate estimate of the recurrence risk for a completely penetrant autosomal dominant disorder, parental somatic mosaicism should be considered in healthy parents... - Congenital diaphragmatic hernia in WAGR syndromeD A Scott
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 134:430-3. 2005..These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia... 
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disordersC J Shaw
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
J Med Genet 41:113-9. 2004..CONCLUSIONS: Array-CGH is an accurate and sensitive method for detecting genomic dosage differences and identifying rearrangement breakpoints, even in LCR-rich regions of the genome...- Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomaliesZ Helias-Rodzewicz
J Med Genet 39:e53. 2002 - Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesL E L M Vissers
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Hum Genet 121:697-709. 2007..Our findings suggest that the LCR burden in proximal 17p may have stimulated the formation of these CCRs and, thus, that genome architectural features such as LCRs may have been instrumental in the generation of these CCRs... - Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasiaM Leipoldt
Institute of Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany
Clin Genet 71:67-75. 2007..We discuss the structure of the 1 Mb cis-control region upstream of SOX9 and the correlation between the position of the 14 mapped translocation breakpoints with respect to disease severity and XY sex reversal... - Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary markerM Oldak
Department of Pediatric Diabetology, Neonatology and Birth Defects, Medical University of Warsaw, Dzialdowska 1, PL 01 184 Warsaw, Poland
Genet Couns 17:29-34. 2006..One cell line had a normal karyotype. In the other two either single or double chromosome 6 derived supernumerary markers were present, leading to partial trisomy or partial tetrasomy of chromosome 6, respectively... - A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-upR Posmyk
Department of Clinical Genetics, Medical University, , Poland
Genet Couns 16:17-25. 2005..However, facial asymmetry was more evident, frontal tubers were less prominent, nasal root and back became prominent nasal back became elongated, the subnasal region was shorter and marked malocclusion appeared... - Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephalyS A Yatsenko
J Med Genet 42:328-35. 2005 - Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndromeS A Yatsenko
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Clin Genet 66:128-36. 2004..Considering that septal defects are the most frequent congenital heart anomaly, we suggest that further investigations in the 10p critical region are important to identify gene(s) responsible for this common birth defect... - The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3P Stankiewicz
Molecular and Human Genetics, Baylor College of Medicine, Houston TX, USA
Cytogenet Genome Res 101:118-23. 2003..Genotyping revealed that the deletion was of maternal origin. We propose that genome architecture involving LCRs may be a major mechanism responsible for the origin of jumping translocations... - The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REPP Stankiewicz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 11:1205-10. 2001..These observations further indicate that higher order genomic architecture involving low-copy repeats resulting from genomic duplication plays a significant role in karyotypic evolution... - Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locusL Edelmann
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Genome Res 11:208-17. 2001..Interestingly, a full-length HERV-K provirus integrated into the sc11.1a locus after the divergence of chimpanzees and humans... - Periaxin mutations cause recessive Dejerine-Sottas neuropathyC F Boerkoel
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 68:325-33. 2001..13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997)... - Assignment1 of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridizationA Dmochowska
Department of Genetics, University of Warsaw, Warsaw (Poland
Cytogenet Cell Genet 83:84-5. 1998