Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

Monosomy 1p36 results from heterozygous deletions of the terminal short chromosome 1 arm, the most common terminal deletion in humans. The microdeletion is split in two usually non-overlapping and clinically distinct classical distal and proximal 1p36 monosomy syndromes. Using comparative genome hybridization, MLPA and qPCR we identified the largest contiguous ∼16 Mb terminal 1p36 deletion reported to date. It covers both distal and proximal regions, causes a neonatally lethal variant with virtually exclusive features of distal 1p36 monosomy, highlighting the key importance of the gene-rich distal region for the "compound" 1p36 phenotype and a threshold deletion-size effect for haplo-lethality.

«Einige Zeit aufs Singen verwendet». Musik als Kernressource dörflicher Kultur am Beispiel des schweizerischen 18. Jahrhunderts

Dealing with popular music in premodern times historical research usually focuses on so called “Volksmusik”. But already in the 18th century researchers were disappointed to find only few traces of imaginary “traditional” music in Switzerland. They unfortunately overlooked that common people kept on with their own stubborn musical culture: Beginning with the Reformation the authorities encouraged the communities to employ schoolmasters who were able to teach music. Their goal was that everybody should be able to participate in liturgical music actively. Over generations even people with no special musical talent adopted their own repertoire of psalms plus techniques of reading music and polyphonic singing. Spontaneous choral singing evolved into a common everyday practice. The most ambitious and brightest teachers even taught instrumental lessons at home on their proper pianos and chamber organs or encouraged the villagers to build new prestigious organs in their churches. The financial burden of such instruments weighted heavily on the communities. Some of them received financial support from the government, albeit unwillingly because it was obvious to the rulers that the villages just wanted to overtop each other. Homemade music was the most important issue in the cultural life of most parishes. Rich communes spent a lot of money to win the best voices on-site for their church choirs. Belonging to an elitists’ singer association paved the way to the farmer-village’s highlevel sociability.