Delineation of 14q32.3 deletion syndrome.

Abstract

A patient with a

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

“…Five cases were diagnosed only by subtelomere fluorescent in situ hybridisation (FISH). 3,20,21 If we consider the case of Maurin et al, 10 a pure distal 14q deletion since the presence of a terminal NOR region should not have any influence on the phenotype assuming the absence of position effect, a total of eight cases with pure distal deletion were confirmed by FISH 12,17,19,20,21 and the break points were mapped in only four patients 10,12,19,20 (Table 1).…”

Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion

“…On chromosome 14, breakages in bands 14q13, 14q24, and 14q32 appear to be more frequent. Several cases of 14q32.3 deletion have been documented [Zelante et al, 1991;Meschede et al, 1998] with common clinical features suggesting a 14qter deletion syndrome [Ortigas et al, 1997]. The precise chromosome regions involved in the present dicentric recombinant are difficult to establish, but the proposita certainly has 14q32.2 deletion and proximal 14q duplication (Fig.…”

Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

“…Anomaly of the aortic arch was also reported in one case of a fetus with a 6 Mb deletion of chromosome 14q [de Pater et al, 2005]. However, most of these symptoms may be seen in both 14q monosomy and 22q11 deletion syndrome, and besides, the patient lacks the most typical symptoms characteristic for 14q terminal deletion syndrome as appointed by Ortigas et al [1997] and summarized by van Karnebeek et al [2002]; this would be, above all, hypotonia, high and prominent forehead, blepharophimosis, and epicanthus. These findings suggest that deletion of 14q in our patient did not have a great influence on his phenotype.…”

“…Terminal deletion of 14q32.3 is a rare entity with few published cases that have been defined as a specific phenotype [Ortigas et al, 1997]. Van Karnebeek et al [2002] proposed a clinically recognizable terminal 14q microdeletion syndrome with the following characteristics: hypotonia, microcephaly, high and prominent forehead, blepharophimosis, epicanthus, short and bulbous nose, broad philtrum, thin upper lip and carp-shaped mouth, and developmental delay.…”