Partial trisomie 5q: Three different phenotypes depending on different duplication segments

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1)

“…In the family reported in this paper, there was one affected child and one intrauterine death. The male-to-female ratio of the cri-du-chat syndrome is 139:192 (Niebuhr, 1978), and that of partial trisomy 5q is 4:10 (Rodewald et al, 1980). But among reported partial trisomy 5q and partial monosomy 5p cases, including ours, the number of male patients was high (M :F= 6:2).…”

“…Although heart disease and inguinal hernia are sometimes noted in patients with partial monosomy 5p, the incidence is not high, and the severity is not as serious as in partial trisomy 5q cases. According to the review of the cases of partial trisomy 5q conducted by Rodewald et al (1980), congenital heart disease and inguinal hernia were characteristic of partial trisomy 5q.…”

“…Furthermore, it was pointed out that the intelligence of individuals with partial monosomy 5p was negatively correlated with the size of the deletion (Wilkins et al, 1983;Carlin and Neadle, 1978), and that individuals with larger deletions tended to have a smaller head size (Niebuhr, 1978;Wilkins et al, 1983) and severe growth retardation (Wilkins et al, 1983). On the other hand, in terminal duplications of 5q, longer duplications (5q31 or 33~qter) had severer growth retardation, developmental retardation, and microcephly than shorter (5q34---,qter) ones (Rodewald et al, 1980).…”

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1

“…This finding suggests that one or more genes located within the duplicated region are sensitive to dosage alterations influencing brain development. Clinical features commonly reported among 32 clinically well-described patients with microscopically visible duplications spanning cytoband 5q35.1 are low birth weight, developmental delay, mental retardation, microcephaly, down-turned palpebral fissures, hypertelorism, micrognathia, dysplastic ears and congenital heart defects (Groen et al 1998;Lazjuk et al 1985;Levy et al 2002;Rodewald et al 1980;Schinzel 2003;Schroeder et al 1986). HPE was reported in two cases: a girl with a duplication of 5q32 fi qter [46,XX,der(10)t(5;10)(q31.3;q26)] and a boy with a microscopically visible 5q32->qter duplication and a 5p15 fi pter deletion, due to an inversion [46,XY, rec(5), dup q, inv(5)(p15q32)] (Lazjuk et al 1985;Schroeder et al 1986).…”

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5

“…Because the chromosome was broken at 5p15.1 in the present case, manifestation of the symptoms of partial monosomy 5p is possible. On the other hand, Rodewald et al (1980) classified the clinical features of trisomy 5q into three groups according to karyotype. Since the trisomic segment is small (5q35.1-.ter) in the patient under study, their classification may not be applied.…”