• Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome
• Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect
• De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly
• Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
• Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1)
• Inactivation pattern of the fragile X in heterozygous carriers
• Interstitial telomeric sequences at the junction site of a jumping translocation
• Isodicentric (X)(q13): a new characteristic chromosomal anomaly in myeloproliferative syndrome?
• Laryngeal atresia sequence as part of the DiGeorge developmental field defect
• Mosaic pericentric inversion of chromosome 2
• New chromosomal syndromes. III. The 13q deletion syndrome
• On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome
• Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13)
• Ring chromosome 14 syndrome
• Silver staining of the supernumerary chromosome in the cat-eye syndrome
• The fetal phenotype of partial trisomy of the long arm of chromosome 4 (4q22----4qter)
• The ICF syndrome: new case and update
• The Robinow syndrome
• The various phenotypes in Xp deletion. observations in eleven patients
• Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome
• Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect
• Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother
• X-chromosome polysomy in the female: personal experience and review of the literature
• X-chromosomes attached by their long arm: case report and replication kinetics of the rearranged X-chromosome
• XY/XXY mosaicism and fragile X syndrome