Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

doi:10.1016/j.ajhg.2011.06.012

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Article

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

American journal of human genetics - 12 Aug 2011

Palomares María, Delicado Alicia, Mansilla Elena, de Torres María Luisa, Vallespín Elena, Fernandez Luis, Martinez-Glez Victor, García-Miñaur Sixto, Nevado Julián, Simarro Fernando Santos, Ruiz-Perez Victor L, Lynch Sally Ann, Sharkey Freddie H, Thuresson Ann-Charlotte, Annerén Göran, Belligni Elga F, Martínez-Fernández María Luisa, Bermejo Eva, Nowakowska Beata, Kutkowska-Kazmierczak Anna, Bocian Ewa, Obersztyn Ewa, Martínez-Frías María Luisa, Hennekam Raoul C M, Lapunzina Pablo

Abstract excerpt

We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 21802062
DOI: 10.1016/j.ajhg.2011.06.012
PMCID: PMC3155189

Genes

ZFHX4

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