18q22.3 → 18q23 Deletion Syndrome and Cleft Palate

2010

Warren Sanger
[email protected]
402-559-6328

The 18q22.3 → 18q23 deletion syndrome was first described by DeGrouchy et al. [1964]. Multiple congenital anomalies known to be associated with the syndrome include microcephaly, short stature, congenital aural atresia (CAA), cleft palate with or without cleft lip (CL/CP), foot deformations, epilepsy, and developmental delay. Since the initial observation of the anomalies associated with 18q deletions, research groups have analyzed cohorts of patients with terminal 18q deletions to better understand the phenotypes associated with the different chromosomal breakpoints [Kline et al., 1993; Cody et al., 1999]. The advent of high-resolution microarray comparative hybridization (aCGH) has facilitated the generation of a phenotype/genotype map for the syndrome [Veltman et al., 2003; Dostal et al., 2006; Feenstra et al., 2007; Cody et al., 2009]. In this research letter we describe a family in which the maternal half-siblings have del(18)(q22.3q23) and similar clinical findings. The cytogenetic data further refines a region associated with the cleft palate component of the phenotype.

Peer-reviewed publications in scholarly journals Published/In Press

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