Interstitial deletion of 11q.

Abstract

Short reportshowever, is the apparent sparsity of clinical similarities among cases sharing relatively large portions of 2q monosomy, such as our present case and that of Narahara et al,2 which overlaps with our patient in being monosomic for 2(q33q35), and that of Warter et al,3 which overlaps with our patient in being monosomic for 2(q34q36). The case described by Narahara et al2was unique in having strabismus; the case of Warter et al3 is set apart in having a small nose, macrostomia, and abnormal dentition; while the present case is distinctive in having antimongoloid slanted palpebral fissures, micrognathia, scoliosis, ulnarly deviated extremities, and recurrent aspiration pneumonia. The clinical heterogeneity of these patients does not at present permit us to delineate interstitial 2q deletion syndrome in the absence of additional patients. The case reported here is the only one of which we are aware showing a deletion involving the region 2(q33q36).

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

“…The cases reported by Sorensen et al [1979]; McPherson and Meissner [1982]; Bateman et al [1984]; Klep-de Pater et al [1985], and Carnevale et al [1987] did not have mental retardation (Table II). However, the cases reported by Taillemite et al [1975], Guc-scekic et al [1989], and Stratton et al [1994] did. We are aware of two additional cases, a mother and her daughter both with deletion 11q13.3q21.…”

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

“…The phenotype we observed in our case has only been described in one other report [11] in which the proband shows poor eye contact and low interest in his surrounding. The rehabilitation process proposed and the neuropsychiatric follow up and counselling have allowed the recovery of adequate relational competences, improved speech and language abilities and a positive evolution of his global cognitive and adaptive capacities and social and school skills.…”

De novo interstitial deletion in the long arm of chromosome 11: a case report

“…He also demonstrated reduced autonomic activities, feeding difficulties, cardiovascular dysfunction, rickets, congenital heart disease, encephalodysplasia, and immune dysfunction. The high-arched palate that we observed in this case was also described in another case by Guć-Sćekić et al (1989). Facial dysmorphism and camptodactyly in our case was observed by Chen et al (2004) in a patient with the karyotype 46,XX, del(11)(q24.1).…”