RT Journal Article SR Electronic T1 A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 104 OP 109 DO 10.1136/jmedgenet-2011-100534 VO 49 IS 2 A1 A-M Molin A1 J Andrieux A1 D A Koolen A1 V Malan A1 M Carella A1 L Colleaux A1 V Cormier-Daire A1 A David A1 N de Leeuw A1 B Delobel A1 B Duban-Bedu A1 R Fischetto A1 F Flinter A1 S Kjaergaard A1 F Kok A1 A C Krepischi A1 C Le Caignec A1 C Mackie Ogilvie A1 S Maia A1 M Mathieu-Dramard A1 A Munnich A1 O Palumbo A1 F Papadia A1 R Pfundt A1 W Reardon A1 A Receveur A1 M Rio A1 L Ronsbro Darling A1 C Rosenberg A1 J Sá A1 L Vallee A1 C Vincent-Delorme A1 L Zelante A1 M-L Bondeson A1 G Annerén YR 2012 UL http://jmg.bmj.com/content/49/2/104.abstract AB Background Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype—phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.Methods Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included.Results The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype—phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20.Conclusion A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.