Summary
A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral dimple, flexion contractures of the fingers, bifid thumb, Simian crease, and overriding toes. In addition, he had a large omphalocele not previously seen in trisomy 1q. Postmortem findings include underdeveloped cerebellum, a thymus with moderate depletion of thymocytes, a large PDA, ASD, small adrenal, and fatty change of the liver. The grandfather, father, and a male sibling have translocation t(1;21)(q25;q22). A family history of repoeated spontaneous abortions is present.
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References
Boué, J. G., Boué, A.: Fréquence des aberrations chromosomiques dans les avorterments spontanés humains. C. R. Acad. Sci. [D] (Paris) 269, 283–286 (1969)
Colombani, P. M., Cunningham, D.: Perinatal aspects of omphalocele and gastroschisis. Am. J. Dis. Child. 131, 1386–1388 (1977)
Eriksson, B., Fraccaro, M., Hulten, M., Lindsten, J., Thoren, C., Tiepolo, L.: Structural abnormalities of chromosome 18. II. Two familial translocation, B/18 and 16/18, ascertained through unbalanced forms. Ann. Genet. 14, 281–290 (1971)
Finley, W. H., Garrett, J. H., Finley, S. C.: Partial trisomy 1q. Am. J. Hum. Genet. 27, 35A (1975)
Garrett, J. H., Finley S. C., Finley, W. H.: Fetal loss and familial chromosome 1 translocations. Clin. Genet. 8, 341–348 (1975)
Garver, K. L., Ciocco, A. M., Turack, N. A.: Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1. Clin. Genet. 10, 319–324 (1976)
Golob, E., Fischer, P., Holzner, H.: Chromosomenanomalien bei Spontanabort. Wien. Klin. Wochenschr. 81, 744–747 (1969)
Kajii, T., Oikawa, K., Itakura, K., Ohsawa, T.: A probable 17–18 trisomy syndrome with phocomelia, exomphalos, and agenesis of hemidiaphragm. Arch. Dis. Child. 39, 519–522 (1964)
Kim, S. H.: Omphalocele. Surg. Clin. North Am. 56, 361–371 (1976)
Mahour, G. H., Weitzmann, J. J., Rosenkrantz, J. G.: Omphalocele and gastroschisis. Ann. Surg. 177, 478–482 (1973)
Moore, T. C.: Gastroschisis and omphalocele: Clinical differences. Surgery 82, 561–568 (1977)
Neu, R. L., Gardner, L. I.: A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation. Clin. Genet. 4, 474–479 (1973)
Norwood, T. H., Hoehn, H.: Trisomy of the long arm of human chromosome 1. Humangenetik 25, 79–82 (1974)
Osuna, A., Lindham, S.: Four cases of omphalocele in two generations of the same family. Clin. Genet. 9, 354–356 (1976)
Palmer, C. G., Christian, J. C., Merritt, A. D.: Partial trisomy 1 due to a “shift” and probable location of the Duffy (Fy) locus. Am. J. Hum. Genet. 29, 371–377 (1977)
Paris Conference: Standardization in human cytogenetics. Birth Defects: Original Article Series 8(7). New York: The National Foundation March of Dimes 1971
Sanger, R., Alfi, O., Donnell, G.: Partial trisomy 1q in 3 patients. Am. J. Hum. Genet. 26, 75A (1974)
Schuster, S. R.: Omphalocele, hernia of the umbilical cord and gastroschisis. In: Pediatric Surgery, M. M. Ravitch (ed.) pp. 778–801. Chicago: Year Book Medical Publishers 1979
Smith, D. W.: Autosomal abnormalities. Am. J. Obstet. Gynecol. 90, 1055–1077 (1964)
Steffensen, D. M., Chu, E. H. Y., Speert, D. P., Wall, P. M., Meilinger, K., Kelch, R. P.: Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum. Genet. 36, 25–33 (1977)
Taysi, K., Sekhon, G. S.: Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q-;6p+). Hum. Genet. 44, 277–285 (1978)
Tedesco, T. A., Barnes, L. A., Parks, M. J., Miller, K. L., Occhipinti, M.: Partial trisomy 1q42→qter due to recombination in a female carrying a balanced rearrangement of chromosome 1. Clin. Res. 26, 75A (1978)
Van den Berghe, H., Van Eygen, M., Fryns, J. P., Tanghe, W., Verresen, H.: Partial trisomy 1, karyotype 46,XY,12-, t(1q,12p)+. Humangenetik 18, 225–230 (1973)
Warkany, J., Passarge, E., Smith, L. B.: Congenital malformations in autosomal trisomy syndrome. Am. J. Dis. Child. 112, 502–517 (1966)
Wertelecki, W., Graham, J. M., Jr., Sergovich, F. R.: The clinical syndrome of triploidy. Obstet. Gynecol. 47, 69–76 (1976)
Yunis, E., Egel, H., Zuñiga, R., Ramirez, E., de Caballero, O. M. T., Leibovici, M.: “de novo” trisomy 1q32→1qter and monosomy 3p25→3pter. Hum. Genet. 36, 113–116 (1977)
Žižka, J., Balíĉek, P., Pokorńa, E., Dostalikova, K., Kodouskova, M.: Exomphalos and trisomy 18 syndrome. Report of two cases. Hum. Genet. 32, 221–223 (1976)
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Chen, H., Gershanik, J.J., Mailhes, J.B. et al. Omphalocele and partial trisomy 1q syndrome. Hum Genet 53, 1–4 (1979). https://doi.org/10.1007/BF00289442
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DOI: https://doi.org/10.1007/BF00289442