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

Abstract

We report on an 8-year-old girl with near-complete trisomy 17p syndrome due to a de novo unbalanced 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. Fluorescence in situ hybridization showed that the breakpoints were p11.2 for both chromosome 14 and 17. Microsatellite analysis showed that the duplicated 17p was of paternal origin, and indicated that the breakpoint involving 17p11.2 is most likely located within the approximately 1-Mb segment from the centromere, and not involving the proximal Smith-Magenis syndrome (SMS) low copy repeat. We compare the clinical features of our patient with those previously reported to further delineate the phenotype of complete trisomy 17p syndrome.

Increased LIS1 expression affects human and mouse brain development

“…Given the above, we hypothesized that increased copy number within the MDS locus is involved in human disease. In support of this hypothesis, complete trisomy of the short arm of chromosome 17 was suggested to comprise a new syndrome owing to the similar phenotypic appearance 16,17 . Until now, there were no reported submicroscopic tandem duplications in 17p13.3 in the MDS region.…”

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene

“…Trisomy for the entire short arm of chromosome 17 is rarely seen, and associated with severe malformations, a recognizable clinical picture, and poor prognosis [Mikhail et al, 2006; Paskulin et al, 2007]. Trisomy of 17p has been reported in association with psychomotor retardation, intrauterine growth retardation, short stature, microcephaly, low‐set ears, sloping forehead, hypertelorism, ptosis, downslanting palpebral fissures, small mandible, high palate, and short neck [Latta and Hoo, 1974; Shabtai et al, 1979; Feldman et al, 1982; Jinno et al, 1982; Rethoré et al, 1983; Martsolf et al, 1988; Schrander‐Stumpel et al, 1990; Lurie et al, 1995; Kulharya et al, 1998; De Pater et al, 2000].…”

Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2—pter with the Deletion of the Terminal Portion of the Chromosome 6

“…The expected phenotypic features of trisomy 17p are microcephaly, mandibular hypoplasia, antimongoloid slanting of palpebral fissures, a high-arched palate, hypertelorism, low-set prominent ears, a short, webbed neck, hypotonia, small palpebral fissures, postnatal growth retardation, redundant neck skin folds, congenital heart defects, club foot, and severe mental retardation [1–5]. The 17p duplication includes the peripheral myelin protein 22 gene within the 17p12 band.…”

“…Since the 1970s, about 30 cases of partial or complete trisomy 17p have been presented in the literature [1–5]. Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare [1].…”

“…Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare [1]. Most of these cases were described in infants and newborns, and to our knowledge only 3 cases of trisomy 17p have been detected intrauterine [6, 7].…”