Partial trisomy-5p

Abstract

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.

Apparent Opitz BBBG syndrome with a partial duplication of 5p

“…This patient had a large duplicated segment of 5p noted in several reports [De Capoa et al, 1967;Noel et al, 1968;Stoll et al, 1975;Monteleone et al, 1976;Brimblecombe et al, 1977;DiLiberti et al, 1977;Yunis et al, 1978;Gustavson et al, 19881. Findings consistent with the G syndrome including macrocephaly, hypertelorism, swallowing difficulties, unusual or harsh cry, and genital anomalies.…”

Partial duplication of 4q12q13 leads to a mild phenotype

“…Most of these have resulted from an unbalanced segregation of a familial translocation [Schrott et al, 1974;Biederman and Bowen, 1976;Cervenka et al, 1976;Yunis et al, 1977;Andrle et al, 1979;Mattei et al, 1979;Stella et al, 1979;Fryns and Van den Berghe, 1980;Merlob et al, 1989;Nucci et al, 1990;Petit et al, 1991;Fryns et al, 1993;Duval et al, 1994;Chen et al, 1997]. Most of these have resulted from an unbalanced segregation of a familial translocation [Schrott et al, 1974;Biederman and Bowen, 1976;Cervenka et al, 1976;Yunis et al, 1977;Andrle et al, 1979;Mattei et al, 1979;Stella et al, 1979;Fryns and Van den Berghe, 1980;Merlob et al, 1989;Nucci et al, 1990;Petit et al, 1991;Fryns et al, 1993;Duval et al, 1994;Chen et al, 1997].…”

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).…”