A familial unbalanced subtelomeric translocation resulting in monosomy 6q27->qter

A retrospective study by oligonucleotide array‐CGH analysis in 50 fetuses with multiple malformations

“…Fetus 3 carries a de novo 6q terminal deletion spanning 4.6 Mb. Few cases with isolated 6q subtelomeric deletions have been reported in the literature (Kraus et al, 2003;Souter et al, 2003;Stevenson et al, 2004;Eash et al, 2005;Elia et al, 2006;Rooms et al, 2006). In most cases, this deletion was not cytogenetically visible.…”

“…For each primer set, from the left to the right respectively in father, female control, fetus, and mother. (c2): qPCR demonstrates that the 11p15.5-11p15.4 duplication arose de novo in the fetus varied from less than 0.5 Mb to over 8 Mb (Kraus et al, 2003;Stevenson et al, 2004;Eash et al, 2005;Rooms et al, 2006;DeScipio et al, 2008). The most common clinical features of the 6qter deletion syndrome (Eash et al, 2005) were present in fetus 3.…”

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy

“…The most relevant probes are mentioned in the Result section and the corresponding figures. Labeling and hybridization protocols for BAC‐clones have been described in detail elsewhere [Kraus et al, 2003a,b; Fauth et al, 2005].…”

“…Chromosome banding analysis revealed a translocation t(2;15) and suggested a possible deletion on 2q. We used advanced molecular cytogenetic methods, including multiplex‐FISH (M‐FISH) [Speicher et al, 1996], array analysis on the GeneChip Mapping 10K 2.0 SNP Affymetrix array [Bignell et al, 2004] and BAC‐clone hybridizations [Kraus et al, 2003a,b; Fauth et al, 2005] to fine map the deletion and to check whether lost genes within the deleted region may explain the clinical features of this patient.…”

Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

“…Subtelomeric rearrangements involving chromosome 6q have been reported in a limited number of studies and the size of the deletion varied from less than 0.5 to 13 Mb [Eash et al, 2005; Striano et al, 2006]. Phenotypic features of 6q terminal deletion syndrome include mild to moderate mental retardation, hypotonia, mild dysmorphic features (long face, large and prominent ears), seizures and various non‐specific malformations (cerebral, cardiac, genital, vertebral, ocular) [Kraus et al, 2003; Eash et al, 2005; Bertini et al, 2006; Rooms et al, 2006; Striano et al, 2006]. Differing degrees of mental impairment do not appear to correlate with the size of the deletion, and phenotypic similarities could not be clearly established within the reported cases [Eash et al, 2005].…”