Reassessment of the 12q15 deletion syndrome critical region.
Interstitial deletions of the long arm of chromosome 12 are rare and only few cases have been reported in literature so far, with different phenotypic features related to size and gene content of deleted regions. Five patients reported a 12q15-q21 deletion, sharing a 1.3 Mb small region of overlap (SRO) and presenting with developmental delay, nasal speech and mild dysmorphic features. We identified by microarray analysis a new case of 12q15 deletion. Our patient clinical features allow the refinement of the SRO to CNOT2, KCNMB4, and PTPRB genes, improving genotype-phenotype correlations.
Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: violaalesi@gmail.com.
Viola
V
Alesi
Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Sara
S
Loddo
Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Marta
M
Grispo
Department of Biomedical Sciences, Clinical Genetics Service, Azienda Ospedaliero-Universitaria, Sassari, Italy.
Simona
S
Riccio
Department of Biomedical Sciences, Clinical Genetics Service, Azienda Ospedaliero-Universitaria, Sassari, Italy.
Andrea Costantino
AC
Montella
Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bruno
B
Dallapiccola
Department of Biomedical Sciences, Clinical Genetics Service, Azienda Ospedaliero-Universitaria, Sassari, Italy.
Lucia
L
Ulgheri
Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Antonio
A
Novelli
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D051038:Large-Conductance Calcium-Activated Potassium Channel beta Subunits / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3 / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D013577:Syndrome
C485365:CNOT2 protein, human; C410183:KCNMB4 protein, human; D051038:Large-Conductance Calcium-Activated Potassium Channel beta Subunits; D009419:Nerve Tissue Proteins; D012097:Repressor Proteins; C516886:PTPRB protein, human; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3
12q interstitial deletion; 12q15