'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.

Abstract

We present a case which we believe to be the only recorded example of trisomy for the complete short arm of chromosome 5 (Brimblecombe and Lewis, 1966). The trisomic condition is the consequence of unbalanced segregation of a balanced translocation found in the mother and interpreted as 46,XX,t(5; 15) (pl1; p 12). Case historyThe proband, Jennifer K, was born normally at term after an uneventful pregnancy, and weighed 2410 g. There was asymmetry of the face, with coloboma of the iris and microphthalmia affecting the left eye. The left ear was downwardly displaced and malformed, with a flattened helix (Fig. 1). Bilateral talipes equinovarus was present. At the age of 5 weeks a successful operation for pyloric stenosis was undertaken.Her developmental progress was retarded so that by the age of 7 months her performance was that normally achieved by an infant of 2 months, and by the age of 30 months she had attained a developmental age of only 12 months. Her weight gain throughout was poor. She died suddenly at the age of 31 months, the cause of death being bronchopneumonia, which was confirmed at necropsy. The only additional abnormality found at this time was a small corpus callosum.

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X

“…We found that the short arm of chromosome 5 could be excluded because of a female with a trisomy of the entire short arm of chromosome 5 inherited from a maternal balanced translocation. 29 This finding was confirmed by our studies of the fetal specimen with 5p tetrasomy. Also, most of the long arm of chromosome 5 is not a candidate region based on evidence from liveborns.…”

Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face

“…It is obvious that our case is the least severe one compared to the other eight published cases which all represent pure partial trisomy 5p. By contrast, the phenotype of duplication 5p, as a result of a structural chromosomal rearrangement, may be strongly modified by the other chromosomal segment involved (Brimblecombe et al, 1977;Yunis et al, 1978;Zabel et al, 1978;Carnevale et al, 1982;Vowles et al, 1984;Chia et al, 1987;Kleczkowska et al, 1987;Gustavson et al, 1988;Rethoré et al, 1989;Zenger-Hain et al, 1993;Lorda-Sanchez et al, 1997;de Pater et al, 2003).…”

“…Copyright © 2006 S. Karger AG, Basel Trisomy of the short arm of chromosome 5 (5p) was first described in 1964 by Lejeune et al Since then it has been recorded with a range of different clinical features and several different mechanisms of origin. The majority of the reported cases of 5p duplication have arisen from structural chromosomal rearrangements (Brimblecombe et al, 1977;Yunis et al, 1978;Zabel et al, 1978;Carnevale et al, 1982;Vowles et al, 1984;Chia et al, 1987;Kleczkowska et al, 1987;Gustavson et al, 1988;Rethoré et al, 1989;ZengerHain et al, 1993;Lorda-Sanchez et al, 1997).…”

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to theLIS1 and the D17S379 loci

“…The characteristic phenotype includes severe mental retardation, failure to thrive, hypotonia, seizures, macrodolichoscaphocephaly, eye abnormalities, depressed nasal bridge, apparently lowset ears, long fingers, and clubfeet. Less frequently described defects were small cerebellum, laryngeal and epiglottal hypoplasia, pyloric stenosis, malrotation of the small and large bowel, polycystic kidneys, and uterus and vagina abnormalities [Brimblecombe et al, 1977;Vowels et al, 1984;Rethoré et al, 1989;Park et al, 1994].…”