Trisomy in the Distal End of the Long Arm of Chromosome 3

Abstract

\s=b\A patient had a trisomy for the distal portion of the third chromosome. The major clinical features were failure to thrive, profound mental retardation, dysmorphic head shape, a short nose, anteverted nares, long eyelashes, synophrys, characteristic mouth, and short stature. The similarities between the clinical picture and the Cornelia de Lange syndrome are very striking. (Am J Dis Child 133:727-730, 1979) Trisomy in the distal end of the long arm of chromosome 3 has been infrequently reported in the literature. These reports have shown several individuals from unrelated families as having a trisomy for distal third chromosome material, some¬ times in conjunction with a monosomy for a small segment of another chro¬ mosome.1" Most of these affected chil¬ dren (18 of 20) have been shown to result from the inheritance of unbal-

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

“…Pure partial trisomy 3q is rare and, apart from our case, only 5 further cases have been reported (Rosenfeld et al 1981;Stengel-Rutkowski Offprint requests to: A. J. van Essen et al 1979;Sciorra et al 1979;Wilson et al 1978). The main physical symptoms in reported cases of partial 3q duplication, however, are similar and seem to obscure the symptoms of any accompanying monosomy irrespective of the size of the trisomy (Mulcahy et al 1979).…”

“…Our patient has a de novo "pure" partial 3q duplication. Previous reports of such cases (Table 1) have been made by Rosenfeld et al (1981), Stengel-Rutkowski et al (1979), Sciorra et al (1979) and Wilson et al (1978). Meiotic unequal crossing-over may be an explanation for these events.…”

“…The similarities in the facial features of children with partial 3q trisomy and Cornelia de Lange syndrome has been repeatedly noted (Falek et al 1966;Sciorra et al 1979;Wilson et al 1978). However, the facial dysmorphism in partial 3q trisomy syndrome should be distinguishable from that in Cornelia de Lange syndrome, in most cases, if an overall view is obtained rather than making a comparison of isolated features (Francke 1978;Francke and Opitz 1979).…”

Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission

“…Over 300 cases of BDLS, both sporadic and familial, have been described. Phenotypic overlap has been observed with trisomy 3q [Falek et al, 1966;Wilson et al, 1978;Sciorra et al, 1979;Van Essen et al, 1991;Wilson et al, 1985;Holder et al, 19941 and a de novo balanced translocation t(3;17) [Ireland et al, 19911. There are seven reports of autosomal dominant transmission of BDLS [Beck 1974;Kumar et al, 1985;Leavitt et al, 1985;Robinson et al, 1985;Reid et al, 1991;de Die-Smulders et al, 1992;Feingold and Lin, 19931 and in all cases, the phenotype is milder in expression than the phenotype associated with sporadic occurrence of this condition. Two instances of male-to-male transmission of BDLS have been reported [Halal and Silver, 1992;Chodirker and Chudley, 19941. Our BDLS family differs in several important ways from those previously reported.…”

Cornelia de Lange syndrome in a mother and daughter

“…Extensive chromosome studies have been done and all, including more recent ones with prometaphase banding, have revealed normal karyotypes except for a few cases (Beck & Mikkelsen 1981, Merikangas et al 1977, McArthur & Edwards 1967, McIntire & Eisen 1965, Mot1 & Opitz 1971, Ptacek et al 1963. The abnormal karyotypes exhibited a wide variety of abnormalities but no consistent chromosomal aberration has been identified (Falek et al 1966, Motl & Opitz 1971, Noe & Hammond 1967, Sciorra et al 1979, Wilson et al 1978.…”