Abstract
A partial trisomy 13q was observed in siblings with hexadactylia, hypertelorism, haemangiomata and severe psychomotor retardation. It originated from a maternal inversion translocation 46,XX,inv(8)(q23q241),t(8;13)(q241;q32). The family showed a pedigree pattern typical for the segregation of a chromosomal translocation. In spite of this the diagnosis was delayed several years, because the bands involved from the two chromosomes were of great similarity. This stresses the importance of reinvestigating families with a clinical suspicion of a chromosomal syndrome, preferentially with prometaphase chromosomes. The identification of a chromosomal rearrangement is essential for genetic counselling and prenatal diagnosis.
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References
Beighle C, Karp LE, Hanson JW, Hall JG, Hoehn H (1977) Small structural changes of chromosome 8. Hum Genet 38:113–121
Bonioli E, Crisalli M, Monteverde R, Vianello MG (1981) Karyotype-phenotype correlation in partial trisomy 13. Am J Dis Child 135:1115–1117
Caspersson T, Zech L, Johansson C, Modest EJ (1970) Identification of human chromosome by DNA-binding fluorescent agents. Chromosoma 30:215–227
Chaudhuri JP, Vogel W, Voiculescu I, Wolf U (1971) A simplified method of demonstrating Giemsa-band pattern in human chromosomes. Humangenetik 14:83–84
Grouchy J, Turleau C (1977) Atlas des maladies chromosomique 356 p. Expansion Scientifique Francaise (ed), Paris
Karlberg P, Perman A (1959) Some physical measurements (weight, length, head circumference and chest circumference) in healthy Swedish children in the first two years of life. Acta Paed [Suppl 48] 117:128–138
Karlberg P, Engström I, Klackenberg G, Klackenberg-Larsson I, Lichtenstein H, Svennberg I, Taranger J (1973) Growth charts for height, weight and head circumference. Acta Paed Scand [Suppl] 236:80–81
Loevy HT, Jayaram BN, Rosenthal IM, Pildes R (1977) Partial trisomy 13 with cleft lip and cleft palate. Cleft Palate J 14: 239–243
Niebuhr E (1977) Partial trisomies and deletions of chromosome 13. New Chromosomal Syndromes, pp 273–299
Schinzel A, Hayashi K, Schmid W (1976) Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13. Hum Genet 32:1–12
Schütten HJ, Schütten BT, Mikkelsen M (1978) Partial trisomy of chromosome 13. Ann Génét 21:95–99
Stalder GR, Bühler EM, Gadola G, Widmer R, Freuler F (1964) A family with balanced D1→C5-translocation carriers and unbalanced offspring. Humangenetik 1:197–200
Yunis JJ, Hook EB (1966) Desoxyribonucleic acid replication and mapping of the D1 chromosome: a study of two patients with partial trisomy D1. Am J Dis Child 3:83–89
Yunis JJ (1976) High-resolution of human chromosomes. Science 191:1268–1270
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Pilgaard, B., Jørgensen, E., Knudsen, V.S. et al. Familial inversion translocation (8;13) with partial trisomy 13 in several family members. Eur J Pediatr 140, 105–108 (1983). https://doi.org/10.1007/BF00441653
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DOI: https://doi.org/10.1007/BF00441653