Summary
A case of complete trisomy 22 in live-born female child with multiple malformations is reported. The karyotype of the index patient had 46 chromosomes, with one chromosome 22 missing and one supranumerary metacentric chromosome. Different banding methods and in situ hybridization revealed that the extra chromosome consists of the long arms and a part of the short arms of two chromosomes 22. Our report supplies further proof that a fetus with complete trisomy 22 can occasionally survive to term, but the condition is not compatible with life over a long period.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Atkins L, Bartsocas CS (1974) Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21,+t(15q21q) and 46,XX,-21,+t(21q21q). J Med Genet 11:306–309
Cervenka J, Hansen CA, Franciosi RA, Gorlin RJ (1977) Trisomy 22 with ‘cat eye’ anomaly. J Med Genet 14:288–290
Emberger JM, Nègre C, Lafon R (1972) Trisomie 13 en mosaique avec isochromosome: 46,XX/46,XX,13-, 13qi. Ann Génét (Paris) 15:111–114
Farah LMS, de S Nazareth HR, Dolnikoff M, Delascio D (1975) Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions. Human genetik 28:357–360
Fried K, Bukovsky J, Rosenblatt M, Mundel G (1974) Familial translocation 15/22. A possible cause for abortions in female carriers. J Med Genet 11:280–282
Guanti G, Maritato F (1978) Unstable telocentric chromosome produced after centric misdivision of a 21q/21q translocated element. Hum Genet 45:355–362
Harper ME, Saunders GF (1981) Localisation of single copy DNA sequences on G-banded human chromosomes by in situ hybridisation. Chromosoma 83:431–439
Higgins JV, Consineau AJ, Pearson G (1981) Chromosomal derivation and development consequences of 22p-/i(22q) cells in a mosaic child with minimal phenotypic findings. Am J Hum Genet 33:106A
Iselius L, Fraxelius G (1978) Trisomy 22 in a newborn girl with multiple malformations. Hereditas 89:269–271
Kirkels VGHJ, Hustinx TWJ, Scheres JMJC (1980) Habitual abortion and translocation (22q;22q) unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18: 456–461
Lalchev S, Tzancheva M, Markova R (1977) A case of trisomy 22 with a probable Robertsonian Translocation 21/22. Hum Genet 45: 219–223
Lewis BV, Ridler MAC (1977) Recurrent abortion associated with a balanced 22:22 translocation, or isochromosome 22q in a monozygous twin. Hum Genet 37:81–85
Lieber E, Shah P (1982) Two Robertsonian translocations in a boy with mental retardation. J Med Genet 19:229–232
McDermid HE, Ducan AMV, Brash KR, Holden JJA, White BN, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A, Teshima I (1986) Characterisation of the supernumerary chromosome in cat eye syndrome. Science 232:646–648
Maeda T, Ohno M, Shimada N, Nishida M, Jobo T (1976) A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique. Hum Genet 31:243–245
Mameli M, Cardia S, Milia A, Seabright M (1978) A further case of a 22;22 Robertsonian translocation associated with recurrent abortions. Hum Genet 41:359–361
Pagon RA, Hall JG, Davenport SCH, Aase J, Norwood TH, Hoehn HW (1979) Abnormal skin fibroblast-cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am J Hum Genet 31:54–56
Pérez-Castillo A, Abrisqueta JA, Martin-Lucas MA, Goday C, Del-Mazo J, Aller V (1975) A new contribution to the study of 22 trisomy. Humangenetik 30:265–271
Schinzel A (1981a) Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13). Hum Genet 56:263–268
Schnizel A (1981b) Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22. Hum Genet 56:263–268
Schinzel A, Schmid W, Auf der Maur P, Moser H, Degenhardt KG, Geisler M, Grubisic A (1981) Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum Genet 56:249–262
Schwinger E (1973) Translocation 22/22? Lancet II:854–855
Turleau C, Grouchy J de, Cornu A, Turquet M, Millet G (1980) Trisomie 14 en mosaique par isochromosome dicentrique. Ann Génét (Paris) 23:238–240
Vianello MG, Bonioli E (1975) Trisomy 22. J Génét Hum 23:239–250
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Voiculescu, I., Back, E., Duncan, A.M.V. et al. Trisomy 22 in a newborn with multiple malformations. Hum Genet 76, 298–301 (1987). https://doi.org/10.1007/BF00283629
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00283629