Letters to the Editor References
Fryns JP, Kleczkowska A, Lemmens P, van den Berghe H.
Daniel A. Y isochromosornes and rings. In: Sandberg AA ed. The Y chromosome, Part B: clinical aspects of Y chromosome abnormalities. New York: Alan Liss, Inc., 1985: 105-135. Fryns JP, Cassiman JJ, van den Berghe H. Unusual in vivo rearrangement of the Y chromosome with mitotic instability in vitro. Hum Genet 1978: 44: 349-355.
Correspondence: Centre for Human Genetics Herestraat 49 B-3000 Leuven Belgium
Unusual in vivo rearrangements of the Ychromosome in two males. Clin Genet 1987: 31: 132-136.
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on To the Editor: Hasegawa and colleagues (1991) reported a reciprocal translocation between chromosomes 7 and 9 associated with EEC syndrome. The breakpoints were indicated as either 7q11.21 and 9pI2 or 7pI 1.2 and 9q12. They indicate that the EEC syndrome may thus localize to one of these four possible breakpoints. A cursory review of the literature suggests that Hasegawa and colleagues have missed several articles which are directly relevant to their subject. The following show deletions or translocations of chromosome 7 associated with ectrodactyly or with the EEC syndrome: Klep-de Pater et al. (1979): del(7)(q1 lq22) Tajara et al. (1989): del(7)(q 11.23q22) Del Porto et al. (1983): del(7q) Pfeiffer (1984): del(7)(q11.2q22.1) Morey & Higgins (1990): de1(7)(q21.3q31.3) Roberts et al. (1991): de1(7)(q21.3) Sharland et al. (1991): complex translocation involving 7q2 1.2
While the Iatter two references are dated 1991, the other five references should have been available and cited by Hasegawa et al. (1991). The breakpoints reported in the Hasegawa et al. (1991) article can also be easily determined by using the alphoid sequences available for chromosomes 7 and 9 (available commercially from Oncor, Gaithersburg, MD). However, I believe the seven articles above listed, combined with the report by Hasegawa, demonstrate that the critical region for the EEC syndrome is on 7ql1.2321.3 Mazin B. Qumsiyeh
References Del Porto G. D’Alessandro E, De Matteis C, Lo Re ML, Invaldi M, Di Fusco C. Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazione cliniche. Pathologica [Suppl] 1983: 75: 268-271. Hasegawa T, Hasegawa Y, Asamura S, Nagai T,Tsuchiya Y, Ninomiya M. Fukushima Y. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft liplpalate) with a balanced reciprocal translocation between 7qlI.21 and 9p12 (or 7pl1.2 and 9q12) in three generations. Clin Genet 1991: 40,202-206. Klep-de Pater JM,Bijlsma JB, Bleeker-Wagemaken EM, DeFrance HF, De Vries-Ekkers CMAM. Two cases with different deletions of the long arm of chromosome 7. J Med Genet 1979 16: 151-154. Morey MA, Higgins RR. Ectro-amelia syndrome associated with an interstitinal deletion of 7q. Am J Med Genet 1990: 35: 95-99. Pfeiffer RA. Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with split handlsplit foot malformation. Ann Genet 1984: 27: 4548. Roberts SH, Hughes HE, Davies SJ, Meredith AL. Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. J Med Genet 1991: 28: 479-48 1. Sharland M, Patton MA, Hill L. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am J Med Genet 1991: 39: 413-414. Tajara EH, Varella-Garcia, M, Gusson ACT. Interstitial longarm deletion of chromosome 7 and ectrodactyly. Am J Med Genet 1989: 32: 192-194. Correspondence: Cytogenetics Laboratory T. C. Thompson Children’s Hospital and University of Tennessee 910 Blackford Street Chattanooga, TN 37403 USA
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Fryns JP, Kleczkowska A, Lemmens P, van den Berghe H.
Daniel A. Y isochromosornes and rings. In: Sandberg AA ed. The Y chromosome, Part B: clinical aspects of Y chromosome abnormalities. New York: Alan Liss, Inc., 1985: 105-135. Fryns JP, Cassiman JJ, van den Berghe H. Unusual in vivo rearrangement of the Y chromosome with mitotic instability in vitro. Hum Genet 1978: 44: 349-355.
Correspondence: Centre for Human Genetics Herestraat 49 B-3000 Leuven Belgium
Unusual in vivo rearrangements of the Ychromosome in two males. Clin Genet 1987: 31: 132-136.
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on To the Editor: Hasegawa and colleagues (1991) reported a reciprocal translocation between chromosomes 7 and 9 associated with EEC syndrome. The breakpoints were indicated as either 7q11.21 and 9pI2 or 7pI 1.2 and 9q12. They indicate that the EEC syndrome may thus localize to one of these four possible breakpoints. A cursory review of the literature suggests that Hasegawa and colleagues have missed several articles which are directly relevant to their subject. The following show deletions or translocations of chromosome 7 associated with ectrodactyly or with the EEC syndrome: Klep-de Pater et al. (1979): del(7)(q1 lq22) Tajara et al. (1989): del(7)(q 11.23q22) Del Porto et al. (1983): del(7q) Pfeiffer (1984): del(7)(q11.2q22.1) Morey & Higgins (1990): de1(7)(q21.3q31.3) Roberts et al. (1991): de1(7)(q21.3) Sharland et al. (1991): complex translocation involving 7q2 1.2
While the Iatter two references are dated 1991, the other five references should have been available and cited by Hasegawa et al. (1991). The breakpoints reported in the Hasegawa et al. (1991) article can also be easily determined by using the alphoid sequences available for chromosomes 7 and 9 (available commercially from Oncor, Gaithersburg, MD). However, I believe the seven articles above listed, combined with the report by Hasegawa, demonstrate that the critical region for the EEC syndrome is on 7ql1.2321.3 Mazin B. Qumsiyeh
References Del Porto G. D’Alessandro E, De Matteis C, Lo Re ML, Invaldi M, Di Fusco C. Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazione cliniche. Pathologica [Suppl] 1983: 75: 268-271. Hasegawa T, Hasegawa Y, Asamura S, Nagai T,Tsuchiya Y, Ninomiya M. Fukushima Y. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft liplpalate) with a balanced reciprocal translocation between 7qlI.21 and 9p12 (or 7pl1.2 and 9q12) in three generations. Clin Genet 1991: 40,202-206. Klep-de Pater JM,Bijlsma JB, Bleeker-Wagemaken EM, DeFrance HF, De Vries-Ekkers CMAM. Two cases with different deletions of the long arm of chromosome 7. J Med Genet 1979 16: 151-154. Morey MA, Higgins RR. Ectro-amelia syndrome associated with an interstitinal deletion of 7q. Am J Med Genet 1990: 35: 95-99. Pfeiffer RA. Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with split handlsplit foot malformation. Ann Genet 1984: 27: 4548. Roberts SH, Hughes HE, Davies SJ, Meredith AL. Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. J Med Genet 1991: 28: 479-48 1. Sharland M, Patton MA, Hill L. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am J Med Genet 1991: 39: 413-414. Tajara EH, Varella-Garcia, M, Gusson ACT. Interstitial longarm deletion of chromosome 7 and ectrodactyly. Am J Med Genet 1989: 32: 192-194. Correspondence: Cytogenetics Laboratory T. C. Thompson Children’s Hospital and University of Tennessee 910 Blackford Street Chattanooga, TN 37403 USA
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