Familial Pericentric Inversion (10) and Its Effect on Two Offspring

J Med Genet: first published as 10.1136/jmg.21.4.317 on 1 August 1984. Downloaded from

Case reports 317 Familial pericentric inversion (10) and its effect on two offspring MARIA TERESA RODRIGUEZ, MARIA JOSE MARTIN, AND JOSE ANTONIO ABRISQUETA Instituto de Gen&tica, CSIC, Madrid, Spain. SUMMARY A pericentric inversion (10)(p15q24) Case report was observed in three generations of a family. A pericentric inv(10)(pl5q24) was observed in three One daughter of the inversion carrier was found generations of a family. The family came to our to have the inv(10) and trisomy 18. The other attention when the proband (111.5, fig 1) was born, offspring had a recombinant (10) chromosome. showing clinical features of Edwards' syndrome. Received for publication 3 January 1984. She was born at 40 weeks' gestation after a normal Accepted for publication 15 January 1984. pregnancy. Birth weight was 1780 g. She died at 10

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FIG 2 GTG banded metaphase from the proband (III.S) showing the inverted and normal chrom?osomes 10 (long arrowts) and the trisomYv 18 (short arrows). J Med Genet: first published as 10.1136/jmg.21.4.317 on 1 August 1984. Downloaded from

31IX3a('se report.s days She was the second child of uiirelated parenits; and seconid toes. Examination of the chest and heart the mother was 35 and the father 48 years old. was norimial. At 21 nionths of age, he weighed 4180 g Another malforimed child was born to the same and his head circunliferenice was 39 5 cm. couple one year later. This second child (111.6) was a boy also born at term after- an LineventfLil (Y1 OGENETIC STUDIES pregnancy. Chromilosome analyses of cultured lymphiocytes by The aniniotic fluid was mecolLiullm stained. Apgar Q, G, and T banding were performed. The proband's score was 9 at I minute. At birth he weighed 2000 g, karyotype was 47,XX,inv(l0)(pl5q24), 1l8 (fig 2). length was 51 cm, and head circuliiiference 26 cim. The inv('l0) was also present in her niother. The Dysmorphic features included dolichocephaly, high fathier's chromosomes were normal. The same anid large forehead, arched eyebrows, microph- inversion was found in four other niembers of the thalmia, hypertelorisni (interpupillary distance 3 5 family (1:.2, 11.7, rl1.4, and 111.8). cim ), epicanthus, antimongoloid slanits, narrow The second child (111.6) carried a recombinant palpebral fissures, flat and broad nose bridge, high abinorimial chromosome 10: 46,XY,rec( 1 0)dup q, arched palate, prominent upper lip, microretrog- inv(10)(pl5q24)nmat (fig 3). Therefore the boy had a nathia, low set ears, long thin fingers, ulniar hand duplication of l0q24 --q(er and a deletion of distal deviation, clinodactylv, aiid a gap between the first p15. http://jmg.bmj.com/

Fi( 3 GTG (and( QFQ /hati(/iiig of(a) tiormli chromosome 10, (b) inv(IO)(p15q124), anid (c)

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Case reports 319 Discussion References Segregation analysis of the inversion through three Dutrillaux B, Laurent C, Roberts JM, Lejeune J. Inver- generations showed a carrier to non-carrier ratio of sion pericentrique, inv(10), chez la mere et aneusomie de recombinaison, inv(10)rec(10), chez soni fils. Cy,togenet 4:3. Cell Genet 1973;12:245-53. As a direct result of the meiotic behaviour of the 2 de Grouchy J, Turleau C. Atlas tles mtialadies clhro,no- inversion, a recombinant chromosome 10, similar somiques. 2nd ed. Paris: Expansion Scientifique Fran- to that described by Dutrillaux et al,' was found in gaise, 1982:178-95. 111.6, who showed the clinical features of the partial Schultz J, Redfield H. Interchromosomal effect on trisomy IOq syndrome.2 crossing-over in Drosophila. Coltd Spring Harbor Sp-In- In addition to the risk related to the segregation posium on Quantitatii'e Biology 1951;16:175. of the inverted chromosome itself, an interchromo- Wolstenholme J, Faed MJW, Robertson J, Lamont MA. somal effect may also exist which could influence Chromosome abnormality in couples with histories of multiple abortions. The outcome of pregnancies sub- non-disjunction involving another chromosomal sequent to ascertainment and a study of familial trans- pair. location carriers. Himni Genet 1983;63:45-7. The existence of this chromosomal interference in 5 Wikramanayake E, Renwick JH, Ferguson-Smith MA. animals has been demonstrated, particularly in Chromosomal heteromorphisms in the assignment of Drosophila.3 In man, this effect has been observed loci to particular autosomes: a study of four pedigrees. Ann Genet (Paris) 14:245-56. mainly in balanced translocations4 and in only a few 1971; instances of pericentric inversions (excluding those 6 Catti A. Inversions familiales et autres aberrations chromosomiques concomitantes. J Genet Hum 1975; affecting chromosome 9).5-9 suppl 23:92-5. In the present family, the occurrence of trisomy 7 Hamerton JL, Canning N, Ray M, Smith S. A cyto- 18 in the offspring of an inversion carrier adds to genetic survey of 14,069 newborn infants. I. Incidence of the evidence supporting this type of chromosomal chromosome anomalies. Clin Genet 1975;8:223-43. effect. However, the age of the parents (35 and 48) 8 Leonard C, Hazael-Massieux P, Boequet L, Larget- may also have contributed to the aneuploidy. Piet L, Boue J. Inversion pericentrique inv(2)(pllql3) Nevertheless with regard to genetic counselling, dans des familles non apparentees. H!Iunangenetik 1975; 28:121-8. in addition to the risk directly attributed to the 9 E, de Caballero 0. an inter- Yunis Torres Duplication deficiency balanced rearrangement, the influence of as the result of meiotic segregation of a maternal inv(10). chromosomal effect should also be considered. Hmni Genet 1981 ;57:71-4. We thank Teresa Zorita, Antonio del Mazo, Amparo Cerrajero, and Victoria Lafita for technical Correspondence and requests for reprints to Dr http://jmg.bmj.com/ assistance, and the FNAS (Ministerio de Sanidad y M T Rodriguez, Instituto de Genetica, Valazquez Seguridad Social) for their support. 144, Madrid 6, Spain. on September 25, 2021 by guest. Protected copyright.