Summary
Clinical and cytogenetic studies are reported on 13 patients with Wolf-Hirschhorn syndrome. The oldest of the living twelve probands is 24 years of age. Three of these patients has a translocation involving the short arm of chromosome 4, and in one of these the anomalous chromosome was inherited from the father. Another three patients were believed, on the basis of GTG-staining, to have a translocation although the origin of the translocated chromatin could not be identified. In the remaining seven patients the anomalous chromosome appeared to be a simple deletion, although in two cases a translocation could not be reled out. Cytogenetic studies in these patients suggest that the critical deletion involved in Wolf-Hirschhorn syndrome is within 4p 16.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Alter M (1970) Variation in palmar creases. Am J Dis Child 120:424–431
Aurias A, Prieur M, Dutrillaux B, Lejeune J (1978) Systematic analysis of 95 reciprocal translocations of autosomes. Hum Genet 45:259–282
Bernstein R, Milne AT, Jenkins T (1978) Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm. J Med Genet 15:310–314
Breg WR, Aronson MM, Greene AE, Coriell LL (1977) Deletion of the short arm of chromosome 4 from a subject with Wolf's syndrome. Repository identification No.GM-72. Cytogenet Cell Genet 18: 307–308
Carlin ME, Norman C (1978) Case report: Partial trisomy 12p associated with 4p deletion due to paternal t(12p-;4p+) translocation. In: Bergsma D (ed) Birth defects original article series XIV/6C. New York, Alan R. Liss, Inc., pp 399–406
Caspersson T, Lomakka G, Zech L (1971) The 24 fluorescence patterns of human metaphase chromosomes — distinguishing characters and variability. Hereditas 67:89–102
Centerwall WR, Thompson WP, Allen IE, Fobes CD (1975) Translocation 4p-syndrome: A general review. Am J Dis Child 129: 366–370
Chavin-Colin F, Turleau C, Limal JM, de Grouchy J (1977) Anneau du chromosome 4. II. Sans dysmorphie faciale. Ann Génét 20:105–109
Coffin GS (1968) A syndrome of retarded development with characteristic appearance. Am J Dis Child 115:698–702
Coffin GS, Wilson MG (1971) Wolf-Hirschhorn syndrome. Am J Dis Child 121:265
Del Mazo J, Abrisqueta JA, Perez-Castillo A, Aller V, Lucas MAM, De Torres ML, Martin MJ (1978) Partial deletion of 4p16 band in a ring chromosome and Wolf syndrome. Hum Genet 44:105–108
Fraisse J, Lauras B, Couturier J, Freycon F (1977) Anneau du chromosome 4. I.-Avec phenotype 4p. Ann Génét 20:101–104
François J, Berger R, Saraux H (1975) Chromosomal aberrations in Ophthalmology. Van Gorcum, Assen/Amsterdam, pp 123–129
Francke U, Arias DE, Nyhan WL (1977) Proximal 4p-deletion: Phenotype differs from classical 4p-syndrome. J Pediatr 90:250–252
Francke U (1980) Role of high-resolution chromosome banding in the evaluation of mentally retarded individuals. In: McCormack MK (ed) Prevention of mental retardation and other developmental disabilities. Marcel Dekker, New York Basel, pp 113–133
Fryns JP, François B, Timmermans J, Emmery L, Speybrouck J, Van den Berghe H (1979) The Wolf-Hirschhorn syndrome. Deletion of the short arm of chromosome 4. Acta Paediatr Belg 32:135–139
Hedner K, Carlsson E, Mitelman F (1977) Wolf-Hirschhorn syndrome and balanced (4;10) translocation in the father. Clin Genet 12: 101–103
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
Johnson VP, Mulder RD, Hosen R (1976) The Wolf-Hirschhorn (4p-) syndrome. Clin Genet 10:104–112
Lambert J-C, Rovinski J, Mattei J-F, Carvi M, Ferrari M, Galiana A, Ayraud N (1979) Monosomie 4p associée a une translocation t(13;14)(p11;p11) paternelle. Pédiatrie 34:167–174
Lejeune J, Rethoré M-O, Dutrillaux B, Lafourcade J, Cruveiller J, Drillon P (1975) Syndrome 4p-par translocation paternelle t(4;20)(p15;p12). Lyon Méd 233:271–274
Levy M, Noel B, Viola D (1976) Wolf's syndrome in twins — translocation in the mother. Acta Genet Med Gemellol 25:267–270
Lurie IW, Lazjuk GI, Ussova YI, Presman EB, Gurevich DB (1980) The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet 17:375–384
Mortimer JG, Chewings W, Miethke P, Smith GF (1978) Trisomy 4p and deletion 4p- in a family having a translocation t(4p-;12p+). Hum Hered 28:132–140
Neu RL, Shott RJ, Gardner LI (1975) 4p- phenotype in an infant with t(4p-;19p→or→q+)mat translocation. Am J Dis Child 129:363–365
Nielsen J, Fischer O, Rasmussen K, Sillesen I, Bernsen A, Saldaña-Garcia P (1977) A 13-year-old girl with Wolf's syndrome and karyotype 46,XX,del(4)(pter→p15::p12→qter), 9qh+. Increased risk of structural chromosome abnormalities in the progeny of mothers with 9qh+. J Ment Defic Res 21:119–126
Ohdo S, Ikeda T, Ogata H (1976) Cytogenetic studies of a case of 4p-syndrome and her mother with balanced translocation 46,XX,t(2;4) (q37;p14). Acta Med Univ Kagoshima 18:1–8
Patyutko RS, Kulieva LM, Egolina NA (1978) The case of partial trisomy 4p due to a paternal balanced translocation. Genetika (Moscow) 14:1653–1657
Pérez-Castillo A, Abrisqueta JA (1977) Ring chromosome 4 and Wolf syndrome. Hum Genet 37:87–91
Rethoré M-O, Dutrillaux B, Giovanelli G, Forabosco A, Dallapiccola B, Lejeune J (1974) La trisomie 4p. Ann Génét 17:125–128
Rolland M, Bourrouillou G, Elana G, Colombies P, Regnier C (1977) Trisomie 10p partielle d'origine paternelle. Deux nouvelles observations dans deux familles differentes. Ann Génét 20:209–213
Schwanitz G, Grosse KP (1973) Partial trisomy 4p with translocation 4p-;22p+ in the father. Ann Génét 16:263–266
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet 2:971–972
Seabright M (1972) The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma 36:204–210
Stoll C, Pennerath A, Lausecker Ch (1981) 4p- syndrome in a girl with translocation t(1;4)(q11;p16)mat. Hum Genet 56:413–415
Taillemite JL, Tufferaud G, Hazael-Massieuz Ph, Baheux-Morlier G, Roux Ch (1977) Deletion partielle du bras court du chromosome 4. A propos de trois observation. Ann Génét 20:93–100
Wilson MG, Towner JW, Negus LD (1970) Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome no.4. J Med Genet 7:164–170
Wilson MG, Towner JW, Coffin GS, Forsman I (1970) Inherited pericentric inversion of chromosome no.4. Am J Hum Genet 22: 679–690
Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H (1965) Defizienz an den kurze Armen eines Chromosoms Nr.4. Humangenetik 1: 397–413
Zizka J, Nielsen J, Balicek P, Lichy J (1975) The clinical and cytogenetic manifestations of four cases with partial deletion of the short arm of one of the chromosomes of group B. Zbornik Vedeckych Poraci Lekarske Fakulty Karlovy University, Suppl. 18:167–175
Author information
Authors and Affiliations
Additional information
Supported in part by Grant No. 286 from the Maternal and Child Health Service, United States Public Health Service.
Rights and permissions
About this article
Cite this article
Wilson, M.G., Towner, J.W., Coffin, G.S. et al. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]. Hum Genet 59, 297–307 (1981). https://doi.org/10.1007/BF00295461
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00295461