BACKGROUND Complex chromosomal rearrangements (CCRs) describe structural
rearrangements, essentially translocations, involving at least three breakpoints on two or more …

Designated under the name of chromoanagenesis, the phenomena of chromothripsis,
chromanasynthesis and chromoplexy constitute new types of complex rearrangements, including …

… a b , Jacques Puechberty MD a , David Geneviève MD a , Geneviève Lefort MD a … Am
J Med Genet A, 158 (2012), pp. 947-963 … Am J Med Genet A, 146 (2008), pp. 1662-1669 …

Purpose: Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of
craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses…

Objectives Inflammasomes are multiprotein complexes that sense pathogens and trigger
biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like …

Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints
(BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been …

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with
heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed …

Background Balanced chromosomal rearrangements associated with abnormal phenotype
are rare events, but may be challenging for genetic counselling, since molecular …

Hydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest
and excessive trophoblastic proliferation. Recurrent hydatidiform moles are defined by the …

Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic.
Case–control studies have associated the 15q11.2 deletion with neurodevelopmental …