Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

Background The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a “Systematic Survey of Balanced Chromosomal Rearrangements in Finns.” In the fi...

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Veröffentlicht in:	Molecular genetics & genomic medicine 2018-01, Vol.6 (1), p.56-68
Hauptverfasser:	Luukkonen, Tiia Maria, Mehrjouy, Mana M., Pöyhönen, Minna, Anttonen, Anna‐Kaisa, Lahermo, Päivi, Ellonen, Pekka, Paulin, Lars, Tommerup, Niels, Palotie, Aarno, Varilo, Teppo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged balanced translocation Base Sequence Breakpoints Children Chromosome 1 Chromosome 12 Chromosome Aberrations Chromosome Breakpoints Chromosome Mapping - methods Chromosome rearrangements Chromosome translocations Chromosomes Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 12 - genetics Congenital anomalies conserved haplotypes Fatigue Female Finland Gene mapping Haplotypes Haplotypes - genetics Headache Heterozygote Humans Ischemia Karyotyping - methods Male mate pair sequencing Middle Aged Migraine Original Pedigree Phenotype Phenotypes position effect Receptor, Muscarinic M3 - genetics Ryanodine Receptor Calcium Release Channel - genetics Ryanodine receptors Shaw Potassium Channels - genetics Tetralogy of Fallot Transcription Transcription Factors - genetics Transient ischemic attack Translocation Translocation, Genetic - genetics Tremor vascular phenotypes
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