Pure trisomy 17p in 60% of cells

Abstract

A patient with pure trisomy of the short arm of chromosome 17 in 60% of the examined cells is reported. She presented a variant chromosome 1 with partial pericentric inversion and increased centromeric heterochromatin in one chromosome 17. The cytogenetic findings are discussed. The clinical findings are compared to those found in other reported cases of partial trisomy 17 and a delineation of a pure trisomy 17p attempted.

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)

“…She has features consistent with the previously described cases with complete trisomy 17p, including pre-and post-natal growth retardation, motor and mental retardation, skeletal anomalies, clinodactyly of the 5th finger, hypertrichosis, as well as facial characteristics including microcephaly, receding forehead, ptosis, low-set malformed ears, smooth philtrum, high-arched palate, and a short broad neck [Latta and Hoo, 1974;Bartsch-Sandhoff and Hieronimi, 1979;Shabtai et al, 1979;Jinno et al, 1982;Martsolf et al, 1988;Schrander-Stumpel et al, 1990;Spinner et al, 1993;Lurie et al, 1995;Kulharya et al, 1998;De Pater et al, 2000]. However, our patient showed some additional features including receding anterior and low posterior hairlines, broad and flared eye brows, strabismus, broad nasal tip with flared nares, full lips, macrostomia, macroglossia, and triangular coarse facies.…”

“…Cytogenetic results of the previously reported cases with complete trisomy 17p are summarized in Table II. Complete trisomy 17p has been reported to be due to an extra 17p-marker [Latta and Hoo, 1974;Shabtai et al, 1979;Kulharya et al, 1998], de novo 17p duplication [Martsolf et al, 1988], duplication as a result of an unbalanced recombination of a familial pericentric inversion [Lurie et al, 1995 (Patient 2)], or as a result of unbalanced translocations. The latter could involve the short arm of an acrocentric chromosome (as in our case) and therefore considered as pure trisomy 17p [Bartsch-Sandhoff and Hieronimi, 1979;Spinner et al, 1993;De Pater et al, 2000] or involve the short or long arm of a non-acrocentric chromosome and therefore represents trisomy 17p as well as partial monosomy of the partner chromosome further contributing to the phenotype [Jinno et al, 1982;Schrander-Stumpel et al, 1990;Lurie et al, 1995 (Patient 3)].…”

“…Complete trisomy of the short arm of chromosome 17 has been previously described, but is quite rare [Latta and Hoo, 1974;Bartsch-Sandhoff and Hieronimi, 1979;Shabtai et al, 1979;Jinno et al, 1982;Martsolf et al, 1988;Schrander-Stumpel et al, 1990;Spinner et al, 1993;Lurie et al, 1995;Kulharya et al, 1998;Morelli et al, 1999;De Pater et al, 2000]. It has been suggested to comprise a new syndrome owing to the similarities in phenotype.…”

De novo partial duplication of 17p [dup(17)(p12→p11.2)]: Clinical report

“…We have recently discovered a patient with duplication of the same interstitial region as found in the deletion syndrome. One other patient with similar partial duplication has been described [Docherty et al, 19831, although there have been eight reports of duplication of the entire short arm partsch-Sandhoff and Hieronimi, 1979;Feldman et al, 1982;Jinno et al, 1982;Latta and Hoo, 1974;Mascarello et al, 1983;Palutke et al, 1976;Shabtai et al, 1979; dup 17 17 dupl7 17 Yamamoto et al, 19791, characterized by severe mental retardation, failure to thrive, hypoplastic ears, micrognathia, flexion abnormalities of fingers, and foot abnormalities.…”

Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

“…A number of these cases have involved duplication of the entire short arm of the chromosome, while others have been partial duplications involving only the proximal short arm [Palutke et al, 1976;Bartsch-Sandhoff et al, 1979;Shabtai et al, 1979;Feldman et al, 1982;Jinno et al, 1982;Mascarello et al, 1983;Docherty et al, 1983;Magenis et al, 1986;Schrander-Stumpel et al, 1990;Kozma et al, 1991;Friedman et al, 1992;Lupski et al, 1992;Upadhyaya et al, 19931. Features commonly observed in duplication 17p are pre-and postnatal growth retardation, severe development delay, microcephaly, and facial dysmorphism including downslanting palpebral fissures, hypertelorism, long philtrum, thin upper lip, and micrognathia [Latta et al, 1974;Palutke et al, 1976;Bartsch-Sandhoff et al, 1979;Shabtai et al, 1979;Feldman et al, 1982;Jinno et al, 1982;Mascarello et al, 1983;Schrander-Stumpel et al, 19901. The phenotypic similarity observed among patients had led authors to suggest the existence of a "trisomy 17p syndrome" [Jinno et al, 1982;Mascarello et al, 1983;Schrander-Stumpel et al, 19901. There have also been reports of cytogenetically visible duplications of 17p in individuals with CharcotMarie-Tooth 1A syndrome Chance et al, 1992;Upadhyaya et al, 19931.…”