Duplication 3p21→3pter and cyclopia

Abstract

We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).

A 9‐year‐old male with a duplication of chromosome 3p25.3p26.2: Clinical report and gene expression analysis

“…Reports of individuals with duplications restricted to only chromosome 3p are much more rare [Gillerot et al, 1987;Kurtzman et al, 1987]. The common malformations seen in partial trisomy 3p include psychomotor and mental retardation, a short neck, hypertelorism and/or telecanthus, cleft lip/palate, microcephaly, short stature, a characteristic face with full cheeks, gastrointestinal malformations and congenital heart defects [Conte et al, 1995].…”

Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia

“…Table 1 summarizes the karyotype and phenotype of the present case and 10 previously reported cases with simultaneous occurrence of dup(3p) and del(7q) (Pfitzer et al, 1982;Kurtzman et al, 1987;Bü rrig et al, 1989;Kent et al, 1990;Gurrieri et al, 1992;Kuller et al, 1992;Van Zalen-Sprock et al, 1995;Chen et al, 1996;Vance et al, 1998). Eight cases were associated with cyclopia, two with HPE-premaxillary agenesis (PMA) and one with cebocephaly.…”

“…Chen et al (1996) additionally reported two sib cases of der(2)t(2;3)(q37;p21)pat, one with cyclopia and the other with HPE-PMA. The presence of HPE as well as other mid-line developmental defects, such as cardiac anomalies, cleft lip and palate, meningocoele and hypospadias in patients with duplication 3p syndrome suggests that dup(3p) may result in dysmorphogenesis of the mid-line development field (Kurtzman et al, 1987;Lurie, 1993).…”

Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q

“…Perhaps more restricted breakpoints within 7q36 lead to aberrant expression of SHH due to a positional effect as proposed by Belloni et al 1996, or there may be an imprinting effect with disruption of an imprinting domain as suspected for Prader-Willi and Angelman syndromes on chromosome 15 [Lalande, 1994]. Another consideration for cell lines GM10064, GM7216, and V-1 is the interaction of partial monosomy of 7q and the dosage effect of partial trisomies of 13q and 3p, since both trisomies have been associated with the HPE phenotype [Roach et al, 1977;Kurtzman et al, 1987;Berry et al, 1990]. Analysis of the Sonic hedgehog gene in these cell lines is underway.…”