19q13.11 microdeletion syndrome

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.

This chromosomal abnormality may represent a novel clinically recognisable microdeletion syndrome caused by haploinsufficiency of dosage sensitive genes in the 19q13.11 region.

Synopsis

 pre- and postnatal growth retardation with slender habitus
 severe postnatal feeding difficulties
 microcephaly
 hypospadias
 signs of ectodermal dysplasia
 cutis aplasia over the posterior occiput

References

 Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. Schuurs-Hoeijmakers JH, Vermeer S, van Bon BW, Pfundt R, Marcelis C, de Brouwer AP, de Leeuw N, de Vries BB. J Med Genet. 2009 Jun;46(6):421-3. PMID: 19487540

 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L. J Med Genet. 2009 Sep;46(9):635-40. PMID: 19126570