Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
We describe a 6-year-old boy carrying a de novo 5 Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems. In order to estimate the role of suggested candidate genes, we compared the deletion of our patient with other previously reported and molecularly characterised deletions that have been re-evaluated on the basis of the current genetic map data. The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself.
Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy. l.ballarati@auxologico.it
Lucia
L
Ballarati
Anna
A
Cereda
Rossella
R
Caselli
Angelo
A
Selicorni
Maria P
MP
Recalcati
Silvia
S
Maitz
Palma
P
Finelli
Lidia
L
Larizza
Daniela
D
Giardino
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017353:Gene Deletion; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D013577:Syndrome; D038501:Tankyrases / Q000235:genetics
D038501:Tankyrases; C418109:TNKS protein, human