Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.

The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek "chromo" for chromosome and "anagenesis" for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms "chromothripsis" and "chromoanasynthesis" and the challenge of genetic counseling are discussed.

Phylogenetic value of jaw elements of lacertid lizards (Squamata: Lacertoidea): a case study with Oligocene material from France.

Several extinct species are known from the family Lacertidae, but due to poor preservation, many of them are based on single bones. Here, we compare phylogenetic signals of disarticulated premaxillae, maxillae and dentaries of lacertids from four French Oligocene localities (Coderet, La Colombière, Roqueprune 2, Mas de Got B). We identified five morphotypes among the premaxillae, six among the maxillae, and ten among the dentaries. These morphotypes were scored as individual taxa per locality into three separate character matrices with the same 246 characters, one matrix for each jaw element. Subsequently, the phylogenetic position of the morphotypes was tested using maximum parsimony. The consensus trees with the dentaries and the maxillae found a large polytomy including all taxa except the outgroup taxon Gekko gecko. The consensus tree with the premaxillae showed a considerably more resolved topology but found all morphotype taxa outside Lacertidae. In a second step, we compared the constitution of our three datasets and the morphotype taxa. Our results suggest that a combination of convergent characters and missing data led to the outgroup position of the premaxilla morphotype taxa. The poor resolution of the maxillae strict consensus is likely a consequence of their fragmentary preservation. For the dentaries, a high amount of missing data due to the high number of morphotype taxa most likely caused the poor tree resolution. Indeed, tests with fewer morphotypes found tree resolutions comparable to the premaxilla data. When linking the morphotypes, five possible lacertid "species" were found. Comparison with already known French Oligocene lacertid species points to a slightly higher species richness of Lacertidae at that time than known before. Reliable species classification based on phylogeny only seems possible when combining the jaw elements or in association with other cranial and postcranial material, putting some doubt on species identifications based on single bones.

A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

New genus and species names for the Eocene lizard Cadurcogekko rugosus Augé, 2005.

Cadurcogekko rugosus Augé, 2005 was described as a gekkotan lizard from the Eocene of France. A revision of the material has revealed that the holotype, a nearly complete dentary, actually belongs to a scincid lizard, for which we erect the new genus Gekkomimus. The rest of material originally referred to C. rugosus is of undoubted gekkotan nature and is included in the new species Cadurcogekko verus, with the exception of a partial left dentary belonging to the iguanid lizard Cadurciguana hoffstetteri.

A new miniaturized lizard from the late Eocene of France and Spain.

We report here a new lizard genus and species shared by two late Eocene localities situated at both versants of the present Pyrenees (South-Western Europe), one located in France (Escamps, MP19), and the other in Catalonia, Spain (Sossís, MP17a). The recovered specimens are remarkable because of their small size and peculiar morphology. Features of the dentary are interpreted as adaptations to a fossorial or semi-fossorial lifestyle, although such modifications obscure the exact phylogenetic relationships of the new taxon. We suggest that it might represent a further example of scincoid lizard that independently achieved adaptations for burrowing or surface-dwelling. This taxon reinforces the hypotheses that link the Southern Pyrenean assemblages to those from France rather than to those of the rest of the Iberian Peninsula, which are supposed to be somehow isolated and endemic to a certain degree during the middle and late Eocene, forming part of the so-called Western Iberian Bioprovince.