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19q13.11 microdeletion syndrome

Thursday 1 March 2012

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.


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


- 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