Summary
In an attempt to determine the critical monosomic segment involved in 4p- syndrome, we studied the precise breakpoints of five inherited cases with the syndrome using a high-resolution banding technique. The 5 patients ranged in age at diagnosis from newborn to 15 months, 4 of whom could be clinically diagnosed as having 4p- syndrome. Common clinical features included mental retardation, low birth weight, growth failure, hypotonia, microcephaly, peculiar facial dysmorphia and ear malformations. Karyotypes of the 5 were 46,XX,−4,+der(4),t(4;21) (p16.1;q22.3)pat; 46,XX,−4,+der(4), inv ins(4;9)(p15.32p16.3;q34.3)pat; 46,XX,rec(4),del p,inv(4)(p15.2q35)pat; and 46,XX,−4,+der(4),t(4;18) (p15.2;p11.21)mat (two cases, related). The results suggested that monosomy for the proximal half of the 4p16 band is sufficient to express 4p-syndrome.
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Narahara, K., Himoto, Y., Yokoyama, Y. et al. The critical monosomic segment involved in 4p- syndrome: A high-resolution banding study on five inherited cases. Jap J Human Genet 29, 403–413 (1984). https://doi.org/10.1007/BF01876498
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DOI: https://doi.org/10.1007/BF01876498
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