PT  - JOURNAL ARTICLE
AU  - V Malan
AU  - O Raoul
AU  - H V Firth
AU  - G Royer
AU  - C Turleau
AU  - A Bernheim
AU  - L Willatt
AU  - A Munnich
AU  - M Vekemans
AU  - S Lyonnet
AU  - V Cormier-Daire
AU  - L Colleaux
TI  - 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation
AID  - 10.1136/jmg.2008.062034
DP  - 2009 Sep 01
TA  - Journal of Medical Genetics
PG  - 635--640
VI  - 46
IP  - 9
4099  - http://jmg.bmj.com/content/46/9/635.short
4100  - http://jmg.bmj.com/content/46/9/635.full
SO  - J Med Genet2009 Sep 01; 46
AB  - Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan–Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a paucity of patients might be due to the difficulty in detecting a small rearrangement on this chromosome that lacks a distinct banding pattern. Array comparative genomic hybridisation (CGH) has become a powerful tool for the detection of microdeletions and microduplications at high resolution in patients with syndromic mental retardation.Methods and results: Using array CGH, this study identified three interstitial overlapping 19q13.11 deletions, defining a minimal critical region of 2.87 Mb, associated with a clinically recognisable syndrome. The three patients share several major features including: pre- and postnatal growth retardation with slender habitus, severe postnatal feeding difficulties, microcephaly, hypospadias, signs of ectodermal dysplasia, and cutis aplasia over the posterior occiput. Interestingly, these clinical features have also been described in a previously reported patient with a 19q12q13.1 deletion. No recurrent breakpoints were identified in our patients, suggesting that no-allelic homologous recombination mechanism is not involved in these rearrangements.Conclusions: Based on these results, the authors suggest that this chromosomal abnormality may represent a novel clinically recognisable microdeletion syndrome caused by haploinsufficiency of dosage sensitive genes in the 19q13.11 region.