Partial trisomy 17q

Abstract

A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.

Partial duplicaton of distal 17q

“…Of the reported cases all have involved band q21, q22, or q23-+qter [Berberich et al, 1978;Turleau et al, 1979;Yamamoto et al, 1979;Fryns et al, 1979;Gallien et al, 1981;Shawe et al, 1983;Naccache et al, 19841. The duplicated portion in the case we report here was much smaller, involving band q25.1-qter.…”

Familial agnathia‐holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance

“…Because this familial recurrence has been referred to as evidence for an autosomal recessive form of agnathia, we think that it is necessary to correct the previously published information. In addition, the survival of only females with the inherited chromosome imbalance is striking in this family, and a similar preponderance of females has been suggested for monosomy 18p [Schinzel, 19841 and for duplication 6p [Bernheim et al, 1979;Breuning et al, 1977;Chiyo et al, 1975;CBt6 et al, 1978;Ferrando et al, 1981;Fryns et al, 1983Fryns et al, , 1986Gouw et al, 1973;Muneer et al, 1984;Pagano et al, 1980;Pearson et al, 1979;Rosi et al, 1979;Schinzel, 1984;Smith and Pettersen, 1985;Therkelsen et al, 1971;Turleau et al, 1978;Yuksel et al, 19801. This probably reflects more deleterious effects of the chromosomal imbalance in males, although the total number of individuals identified is small.…”

A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

“…Now, with over 20 cases reported, the phenotype of the distal 17q trisomy syndrome consists of microcephaly, facial features including short palpebral fissures, down‐slanting palpebral fissures, hypertelorism, flattened and broad nasal bridge, wide mouth, thin upper lip, downturned corner of the mouth, low‐set and posterior rotated ears, micrognathia, long and smooth philtrum, cleft lip and/or palate, joint laxity and other organ anomalies such as cardiac defects, renal, and limb anomalies . De novo and mosaic cases have been reported . The majority of cases are due to unbalanced translocations inherited from balanced translocation carriers .…”