Summary
Paracentric inversion of chromosome 7 was found in a female infant with multiple malformations and in her phenotypically normal mother. Examination of prometaphase chromosomes revealed an additional small dark band on the inverted chromosome 7 of the girl. It was assumed that an unequal crossing over at the base of a meiotic loop of chromosome 7 had occurred in the mother and resulted in a tiny interstitial duplication in the girl.
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References
Bass HN, Sparkes RS, Crandall BF, Tannenbaum SM (1978) Familial partial trisomy 10q(q23→qter) syndrome and paracentric inversion 3(q13q26) in the same patient. Ann Genet (Paris) 21:74–77
Canki N, Dutrillaux B (1979) Two cases of familial paracentric inversion in man associated with sex chromosome anomaly. 47, XXY, inv(5) (q21q32) and 45,X,inv(7) (q11.3q22.3). Hum Genet 47:261–268
Del Solar C, Uchida I (1974) Identification of chromosomal abnormalities by quinacrine-staining technique in patients with normal karyotypes by conventional analysis. J Pediatr 84:534–538
Dutrillaux B, Viegas-Pequignot E (1981) High resolution R- and G-banding on the same preparation. Hum Genet 57:93–95
Fryns JP, Van den Berghe H (1980) Paracentric inversion in man: pesonal experience and review of the literature. Hum Genet 54: 413–416
Funderburk SJ, Spence MA, Sparkes RS (1977) Mental retardation associated with “balanced” chromosome arrangement. Am J Hum Genet 29:136–141
Ikeuchi T, Sasaki M (1979) Accumulation of early mitotic cells in ethidium bromide-treated human lymphocyte cultures. Proc Jpn Acad 55:15–18
ISCN (1981) An international system for human cytogenetic nomenclature—high resolution banding. Cytogenet Cell Genet 31:14
Knuutila S, Panelius M, Pihlaja T (1977) A mentally and physically retarded girl with a familial balanced reciprocal translocation t(7;13). Hereditas 85:249–250
Riccardi VM, Holmquist GP (1979) De novo 13q paracentric inversion in a boy with cleft palate and mental retardation. Hum Genet 52: 211–215
Ridler MAC, Sutton SD (1981) A case of a paracentric inversion inv(7) (q11q22). Prenatal detection and counselling. Prenatal Diagnosis 1:81–84
Shimba H, Ohtaki K, Tanabe K, Sofuni T (1976) Paracentric inversion of human chromosome 7. Hum Genet 31:1–7
Sparkes RS, Muller H, Klisak I (1979) Retinoblastoma with 13q-chromosomal deletion associated with maternal paracentric inversion of 13q. Science 203:1027–1029
Thorbeck R (1982) Goldenhar-Syndrom und Hydrozephalus. Monatsschr Kinderheilkd 130:47–49
Yu CW, Borgaonkar DS, Bolling DR (1976) Paracentric inversion in man. Hum Genet 34:117
Zhao Y, Cheng Z, Liu C, Lo WH-Y, Opitz JM (1982) Phenotypic effects of inherited balanced translocation. Am J Hum Genet 11:177–184
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Hoo, J.J., Lorenz, R., Fischer, A. et al. Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion. Hum Genet 62, 113–116 (1982). https://doi.org/10.1007/BF00282296
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DOI: https://doi.org/10.1007/BF00282296