Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.

Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper- and hypopigmented regions identified a 47,XX,+12/46,XX karyotype. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation.

[Pediatric psychiatry: evolution and developments]. / La psychiatrie infanto-juvénile evolution et développements.

Since 1986, the field of the child and adolescent clinics in the University Children Hospital Queen Fabiola is much developed. It is divided in five areas: the ambulatory sector, the medical psycho-psychiatry field, the day unit, the psychiatric hospitalisation and the ward. The population consists in babies (not yet born and born), children, adolescents. The clinical approach is multi and transdisciplinary including the child, his family and his life systems, caring staff included. Clinical research is centered on four axes: medical psychology, prevention, therapy and child psychiatry, somatic aspects included.