Summary
A newborn girl had features of the 4p- syndrome. Cytogenetic studies of the mother showed a translocation t(1;4)(q11;p16). The proband had the translocation, but the band 4p16 had been lost.
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Centerwall WR, Thompson WP, Allen IE, Fobes CD (1975) Translocation 4p- syndrome. A general review. Am J Dis Child 129:366–370
Craig-Holmes AP, Moore FB, Shaw MW (1975) Polymorphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing-over. Am J Hum Genet 27:178–189
Francois J, Berger R, Saraux H (1972) Les aberrations chromosomiques en ophtalmologie. Masson et Cie, Paris, p 153
Hirschhorn K, Cooper HL, Firschein IL (1965) Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion. Humangenetik 1:479–482
McKenzie WH, Lubs HA (1975) Human Q and C chromosomal variations: distribution and incidence. Cytogenet Cell Genet 14:97–115
Muller HJ (1935) A viable two-gene deficiency phenotypically resembling the corresponding hypomorphic mutations. J Hered 26:469–478
Neu RL, Shott RJ, Gardner L (1975) 4p- phenotype in an infant with t(4p-; 19p or q+)mat translocation. Am J Dis Child 129:363–365
Wilcox LM, Bercovitch L, Howard RO (1978) Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome). Am J Ophthalmol 86:834–839
Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H (1965) Defizienz an den kurzen Armen eines Chromosomes Nr. 4. Humangenetik 1:397–413
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Stoll, C., Pennerath, A. & Lausecker, C. 4p- syndrome in a girl with translocation t(1;4)(q11;p16)mat. Hum Genet 56, 413–415 (1981). https://doi.org/10.1007/BF00274704
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DOI: https://doi.org/10.1007/BF00274704