SummaryIn 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) (pl5.2;pll.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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