1q44-qter Trisomy:Clinical Report and Review of the Literature

Abstract

Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.

Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases

“…Patient No. 21 had a 0.61 Mb microduplication in the 1q44 region, which is related to previously reported distal 1q trisomy syndrome 9. Patient No.…”

Case Report Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

“…In this case report, we describe a cryptic chromosomal rearrangement in two cousins similarly affected with partial 9p monosomy and partial 1q trisomy, both originating from a balanced translocation t(1;9) (q44;p24.3) present in both mothers. Although monosomy 9p has been seldom reported (Swinkels et al, 2008), some cases of 1q44 duplication have been described (Lenzini et al, 2009), while reported cases with both alterations, partial monosomy 9p and partial trisomy 1q are even rarer (Verbraak et al, 1992;Kulikowski et al, 2008).…”