Summary
We describe the phenotype of a child having a recombinant chromosome 3 with a duplication 3q13.2 →q25 derived from a paternal inv ins(3)(p25.3q25q13.2). A review of 27 reported cases of intrachromosomal insertions has revealed that for a carrier of intrachromosomal insertion the risk of a child with an unbalanced karyotype is 15%. This risk may be higher for particular insertions. The recombinant chromosome can have a duplication or a deletion of different segments depending on whether the insertion is direct or inverted, paracentric or pericentric, and whether there is meiotic crossing over in the inserted or the interstitial non-inserted segment. Several of the insertions have been difficult to interpret and some of them have been mistaken for paracentric inversions. Caution is therefore indicated in interpreting parental karyotypes of a child with a deletion or a duplication, particularly if it is interstitial. This is because, whereas a risk of recurrence of a child with an unbalanced karyotype is low in de novo cases and for carriers of paracentric inversions, it is high for carriers of insertions.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Allderdice PW, Onyett H, Johnson A, Horwood S, Eales B (1980) Consequence of the bridge-breakage-fusion cycle for human paracentric inversion chromosome 9q carriers: children with duplication-deficient 9q syndrome. Am J Hum Genet 32:61A
Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G (1983) Duplication 9q34 syndrome. Am J Hum Genet 35:1005–1019
Breslau EJ, Disteche C, Hall JG, Thuline H, Cooper P (1981) Prometaphase chromosomes in five patients with the Brachmannde Lange syndrome. Am J Med Genet 10:179–186
Bridges CB (1923) The translocation of a section of chromosome II upon chromosome III in Drosophila (abstract). Anat Rec 24:426
Callen DF, Woollatt E, Sutherland GR (1985) Paracentric inversions in man. Clin Genet 27:87–92
Cattanach BM (1974) Position effect variegation in the mouse. Genet Res 23:291–306
Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SDJ, Hamerton JL (1974) Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet 11:353–366
Cohen MM, Lerner C, Balkin NE (1983) Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment. Am J Med Genet 14:89–96
Cross I, Delhanty J, Chapman P, Griffin D, Wolstenholme J, Bradburn M, Brown J, Wood C, Gunn A, Burn J (1991) An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet 28:564
Daniel A, Hook EB, Wulf G (1969) Reciprocal translocations. Br Med Bull 25:110–114
Forsythe GM, Walker H, Weiss L, Roberson JR, Worsham MJ, Babu VR, Van Dyke DL (1988) Duplication and deletion 11q23-q24 recombinants in two offspring of an intrachromosomal insertion (‘shift’) carrier. Henry Ford Hosp Med J 36:183–186
Fryns JP, Eygen M van, Logghe N, Berghe H van den (1978) Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata. Hum Genet 40:333–339
Garver KL, Ciocco AM, Turack NA (1976) Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1. Clin Genet 10:319–324
Garver KL, Marchese SG, Fatora SR, Pan SF (1978) Reproductive outcome in a family with an inherited deletion-insertion chromosome 1. Am J Obstet Gynecol 131:345–346
Grass FS, Schwartz RP, Deal JO, Parke JC Jr (1981) Gonadal dysgenesis, intra-X chromosome insertion, and possible position effect in an otherwise normal female. Clin Genet 20:28–35
Hamerton JL (1971) Human cytogenetics, vol 1. Academic Press, New York London
Hastings R, Hamer B, Roth S, Lucas M (1990) Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16). Clin Genet 38:121–125
Hoegerman SF (1979) Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion. Science 205:1035–1036
Jacobs PA, Melville M, Ratcliffe S (1974) A cytogenetic survey of 11680 newborn infants. Ann Hum Genet 37:359–376
Jalbert P, Jalbert H, Sele B, Mouriquand C, Malka J, Boucharlat J, Pison H (1975) Partial trisomy for the long arms of chromosome no. 5 due to insertion and further ‘aneusomie de recombinaison’. J Med Genet 12:418–423
Kajii T, Matsuura S, Murano I, Kuwano A (1987) Inverted insertion (9)(q34.3q22.3q21.2) and its recombination product: duplication 9q21.2q22.3. Jpn J Hum Genet 32:45–48
Kelly TE, Wyandt H, Kasprzak R, Ennis J, Willson K, Koch V, Schnatterly P (1979) Paracentric inversion: probable mechanism for an interstitial 3p deletion in a patient with multiple anomalies. Am J Hum Genet 31:100A
Kleczkowska A, Fryns JP, Moerman F, Martens M, Eggermont E, Jaeken J, Berghe H van den (1988) Trisomy 3q2 and PierreRobin sequence in a boy with unbalanced 46,XY,der(10). t(3;10)(q23;q26.3) de novo karyotype. Helv Paediatr Acta 43:245–248
Madan K (1988) Paracentric inversions and their clinical implications. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Liss, New York, pp 249–266
Martin NJ, Cartwright DW, Harvey PJ (1985) Duplication 5q (5q22→5q33): from an intrachromosomal insertion. Am J Med Genet 20:57–62
Meinecke P (1990) Terminal deletion of chromosome 3p in adults: a fourth observation. Am J Med Genet 36:519–520
Miller M, Kaufman G, Reed G, Bilenker R, Schinzel A (1979) Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15→7p21. Am J Med Genet 4:323–332
Montero MR, Martinez A, Fayos JL, Alvarez V (1988) A new case of partial trisomy 3(q25→qter) in a newborn. Ann Génét (Paris) 31:65–68
Mules EH, Stamberg J (1984) Reproductive outcomes in paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review. Hum Genet 67:126–131
Muller HJ (1940) Bearings of the ‘Drosophila’ work on systematics. In: Huxley JS (ed) The new systematics. Oxford University Press, Oxford, pp 185–268
Narahara K, Takahashi Y, Kikkawa K, Wakita Y, Shunsuke K, Kimoto H (1986) Assignment of ABO locus to 9q31.3→qter by study of a family in which an intrachromosomal shift involving chromosome 9 is segregating. Jpn J Hum Genet 31:289–296
Pai GS, Rogers JF, Sommer A (1983) Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father. Am J Med Genet 14:189–195
Palmer CG, Christian JC, Merritt AD (1977) Partial trisomy 1 due to a “shift” and probable location of the Duffy (Fy) locus. Am J Hum Genet 29:371–377
Pan SF, Fatora SR, Sorg R, Garver KL, Steele MW (1977) Meiotic consequences of an intrachromosomal insertion of chromosome no. 1:a family pedigree. Clin Genet 12:303–313
Petrosky DL, Borgaonkar DS (1984) Segregation analysis in reciprocal translocation carriers. Am J Med Genet 19:137–159
Pfeiffer RA, Englisch W (1987) Partial trisomy 1 (1q31–41) subsequent to intrachromosomal insertion in 1p31.3 in a newborn and the sister of the mother. Monatsschr Kinderheilkd 135:851–856
Preus M, Vekemans M, Kaplan P (1986) Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndrome. Am J Med Genet 23:935–943
Ramer JC, Ladda RL, Frankel C (1989) Two infants with del(3) (p25pter) and a review of previously reported cases. Am J Med Genet 33:108–112
Roberts SH, Cowie VA, Singh KR (1986) Intrachromosomal insertion of chromosome 13 in a family with psychosis and mental subnormality. J Ment Defic Res 30:227–232
Sarto GE, Therman E, Patau K (1973) X inactivation in man: a woman with t(Xq-;12q+). Am J Hum Genet 25:262–270
Searle AG, Beechey CV, Boer P de, Rooji DG de, Evans EP, Kirk M (1983) A male-sterile insertion in the mouse. Cytogenet Cell Genet 36:617–626
Sparkes RS, Muller H, Klisak I (1979) Retinoblastoma with 13q-chromosomal deletion associated with maternal paracentric inversion of 13q. Science 203:1027–1029
Steinbach P, Adkins WN Jr, Caspar H, Dumars KW, Gebauer J, Gilbert EF, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia EG, Langenbeck U, Meisner LF, Najafzadeh TM, Opitz JM, Palmer CG, Peters HH, Scholz W, Tavares AS, Wiedeking C (1981) The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet 10:159–177
Stene J, Stengel-Rutkowski S (1988) Genetic risks of familial reciprocal and Robertsonian translocation carriers. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Liss, New York, pp 3–72
Strobel RJ, Riccardi VM, Ledbetter DH, Hittner HM (1980) Duplication 11p11.3→14.1 to meiotic crossing-over. Am J Med Genet 7:15–20
Therkelsen AJ, Hultén M, Jonasson J, Lindsten J, Christensen NC, Iversen T (1973) Presumptive direct insertion within chromosome 2 in man. Ann Hum Genet 36:367–373
Valcárcel E, Benítez J, Martínez P, Rey JA, Sánchez Cascos A (1983) Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5. Hum Genet 63:78–81
Vekemans M, Morichon-Delvallez N (1990) Duplication of the long arm of chromosome 13 secondary to a recombination in a maternal intrachromosomal insertion (shift). Prenat Diagn 10:787–794
Watson MS, Dowton SB, Rohrbaugh J (1990) Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring. Am J Med Genet 36:172–174
Webb GC, Voullaire LE, Rogers JG (1988) Duplication of a small segment of 5p due to maternal recombination within a paracentric shift. Am J Med Genet 30:875–881
Williamson RA, Donlan MA, Dolan CR, Thuline HC, Harrison MT, Hall JG (1981) Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring. Am J Med Genet 9:105–111
Wilson GN, Dasouky M, Barr M Jr (1985) Further delineation of the dup(3q) syndrome. Am J Med Genet 22:117–123
Worsham MJ, Miller DA, Devries JM, Mitchell AR, Babu VR, Surli V, Weiss L, Van Dyke DL (1989) A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres. Am J Hum Genet 44:115–123
Wyandt HE, Kasprzak R, Ennis J, Willson K, Koch V, Schnatterly P, Wilson W, Kelly TE (1980) Interstitial 3p deletion in a child due to paternal paracentric inserted inversion. Am J Hum Genet 32:731–735
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Madan, K., Menko, F.H. Intrachromosomal insertions: a case report and a review. Hum Genet 89, 1–9 (1992). https://doi.org/10.1007/BF00207032
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00207032