Abstract
An eight months old child with duplication 3p (p21→3pter) [karyotype: 46,XX,-6,+t(3;6)(6pter→6q27::3p21→3p-ter)] resulting from a maternal balanced translocation (3;6) is described. The major clinical findings include congenital heart defects (several ventricular septal defects, atrial septal defect, patent ductus arteriosus, and double outlet right ventricle), and multiple dysmorphic features, such as brachycephaly, frontal bossing, square shaped face, hypertelorism, epicanthus, short prominent philtrum, and short neck. The motor development is retarded. The size of the duplicated segment of 3p is compared to 12 cases reported in the literature. Although the size of the duplicated segment differs in most of the patients, all show a similar pattern of developmental defects. It appears that the region 3p25→3pter is responsible for the phenotype of duplication 3p syndrome.
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Ballesta F, Vehi L (1974) Trisomie partielle pour la partie distale du bras court du chromosome 3. Ann Génét 17:287–289
Francke U (1978) Clinical syndromes associated with partial duplications of chromosomes 2 and 3:dup(2p),dn(2q),dup(3p),dup(3q). Brith Defect: Original Article Series, XIV 6C:191–217
Monteira de Pina Neto J, Ferrari I (1980) Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family. Am J Med Genet 5:25–33
Parloir C, Fryns JP, van den Berghe H (1979) Partial trisomy of the short arm of chromosome 3(3p25→3pter). A distinct clinical entity. Hum Genet 47:239–244
Rethoré MO, Lejeune J, Carpentier S, Prieur M, Dutrillaux B, Seringe Ph, Rossier A, Jo JC (1972) Trisomie pour la partie distale du bras court du chromosome 3 chez trois germains. Ann Génét 15:159–165
Say B, Barber N, Bobrow M, Jones K, Coldwell JG (1976) Familial translocation (3p15p) with partial trisomy for the upper arm of chromosome 3 in two sibs. J Pediat 88:447–450
Schinzel A, Hansen JW, Pagon RA, Hoehn H, Smith DW (1978) Trisomy 3(p23→pter) resulting from maternal translocation (3;4) (p23;q35). Ann Génét 21:168–171
Yunis JJ (1978) Trisomy for the distal end of the short arm of chromosome 3. Am J Dis Childr 132:30–33
Charrow J, Cohen MM, Meeker D (1981) Duplication 3p Syndrome: Report of a new case and review of the literature. Am J Med Genet 8:431–436
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This investigation was supported in part by the Deutsche Forschungsgemeinschaft
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Braga, S., Schmidt, A. Clinical and cytogenetic spectrum of duplication 3p. Eur J Pediatr 138, 195–197 (1982). https://doi.org/10.1007/BF00441155
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DOI: https://doi.org/10.1007/BF00441155