Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

American Journal of Medical Genetics

Volumn 84, Issue 2, 1999, Pages 132-136

  Angle, Brad ^a   Yen, Frank ^b   Cole, Cameron W ^b  

^a UNIVERSITY OF LOUISVILLE SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

Chromosome abnormality; Reciprocal translocation; Trisomy 14q; Trisomy 9p

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 9P; CLEFT PALATE; FACE MALFORMATION; FEMALE; HUMAN; INFANT; PHENOTYPE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; TRISOMY;

CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; PHENOTYPE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0032902478     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990521)84:2<132::AID-AJMG9>3.0.CO;2-T     Document Type: Article

References (34)

1. Allerdice PW, Miller OJ, Miller DA, Breg WR, Gendel E, Zelson C. 1971. Familial translocation involving chromosomes 6, 14 and 20, identified by quinicrine fluorescence. Humangenetik 13:205-209.
2. Brögger A. 1967. Translocations in human chromosomes. Oslo: Universitets Forlager, p 110.
3. Carr DM, Jones-Quartey K, Vartanian MV, Moore-Kaplan H. 1987. Duplication 14(q31→,qter). J Med Genet 24:372-374.
4. Centerwall WR, Beatty-Desana JW. 1975. The trisomy 9p syndrome. Pediatr 56:748-755.
5. Cuoco C, Gimelli G, Pasquali F, Poloni L, Zuffardi O, Alicata P, Battaglino G, Bernardi F, Cerone R, Cotellessa M, Ghidoni A, Motta S. 1982. Duplication of the short arm of chromosome 9. Analysis of five cases. Hum Genet 61:3-7.
6. Fawcett WA, McCord WK, Francke U. 1975. Trisomy 14q-. BD:OAS II(5): 223-228.
7. Fryns JP, Cassiman JJ, Van den Berghe H. 1974. Tertiary partial 14 trisomy 47,XX, +14q-. Humangenetik 24:71-77.
8. Fujimoto A, Lin MS, Schwartz S. 1998. Direct duplication of 9p22→p24 in a child with duplication 9p syndrome. Am J Med Genet 77:268-271.
9. Haddad BR, Lin AE, Wyandt H, Milunsky A. 1996. Molecular cytogentic characterization of the first familial case of partial 9p duplication (p22p24). J Med Genet 33:1045-1047.
10. Hauschteck E, Mürst G, Prader A, Bühler E. 1966. Siblings with different types of chromosomal aberrations due to D/E-translocation of the mother. Cytogenetics 5:281-293.
11. ISCN. 1995. An international system for human cytogenetic nomenclature. Mitelman F, editor. Basel: S. Karger.
12. Jacobsen P, Dupont A, Mikkelsen M. 1963. Translocation in the 13-15 group as a cause of partial trisomy and spontaneous abortion in the same family. Lancet 2:584-585.
13. Jalbert P, Sele B. 1979. Factors predisposing to adjacent 2 and 3:1 disjunction: study of 161 human reciprocal translocations. J Med Genet:16: 465-478.
14. Kovacs G, Mihai C. 1979. Tertiary trisomy 14q-, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22). Hum Genet 49:175-178.
15. Laurent C, Dutrillaux B, Biemont M, Genoud J, Bethenod M. 1973. Translocation t(14q-;21q+) chez le pére - Trisomie 14 et monosomie 21 partielles chez la fille. Ann Génét 16:281-284.
16. Lindenbaum RH, Bobrow M. 1975. Reciprocal translocation in man. 3:1 meiotic disjunction resulting in 47 or 45 chromosome offspring. J Med Genet 12:29-43.
17. LoCurto F, Maraschio P, Milanesi P, Severi F, Ugazio AC, Zuffardi O. 1976. The syndrome of partial trisomy 14q. Eur J Pediatr 123:237-241.
18. Miller JR, Dill FJ, Corey MJ, Rigg JM. 1970. A rare translocation (47,XY,t(2p-;21q+),21+) associated with Down's syndrome. J Med Genet 7:389-393.
19. Motigi T, Watanabe K, Nakamura N, Hasegawa T, Yanagawa Y. 1985. De novo tandem duplication 9p (p12-→p24) with normal GALT activity in red cells. J Med Genet 22:64-80.
20. Muldal S, Enoch BA, Ahmed A, Harris R. 1973. Partial trisomy 14q-; and pseudoxanthoma elasticum. Clin Genet 4:480-489.
21. Pena SDJ, Ray M, McAlpine PJ, Ducasse C, Briggs J, Hamerton JL. 1976. Tertiary trisomy 14: is there a syndrome? BD:OAS XII(5):113-118.
22. Raoul O, Rethoré MO, Dutrillaux B, Michon L, Lejeune J. 1975. Trisomie 14q partielle. I. Trisomie 14q partielle par translocation maternelle t(10;14) (p15.2;q22). Ann Génét 18:35-39.
23. Reiss JA, Wyandt HE, Magenis RE, Lovrien EW, Hecht F. 1972. Mosaicism with translocation; autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-). J Med Genet 9:280-286.
24. Rethoré MO, Larget-Piet L, Abonyi D, Boeswillwald M, Berger R, Carpentier S, Cruveiller J, Dutrillaux B, Lafourcade J, Penneau M, Lejeune J. 1970. Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvell entité morbide. Ann Génét (Paris) 13:217-232.
25. Schinzel A. 1979. Trisomy 9p, a chromosome aberration with distinct radiologic findings. Ped Radiology 130:125-133.
26. Short EM, Solitare GB, Breg WR. 1972. A case of 14 trisomy 47, XX,(14q-)+ and translocation t(9p+;14q-) in mother and brother. J Med Genet 9: 367-373.
27. Simpson J, Zellweger H. 1977. Partial trisomy 14q- and parental translocation of no. 14 chromosome. J Med Genet 14:124-127.
28. Smart RD, Viljoen DL, Fraser B. 1988. Partial trisomy 9- further delineation of the phenotype. Am J Med Genet 31:947-951.
29. Smith A, den Dulk G, Elliot G. 1880. A severely retarded 18-year-old boy with tertiary partial trisomy 14. J Med Genet 17:230-232.
30. Turleau C, deGrouchy J, Bocquentin F, Roubin M, Chavin-Colin F. 1975. Trisomie 14q partielle. II - Trisomie 14q partielle par translocation maternelle (12;14)(q24.4;q21). Ann Génét 18:41-44.
31. Wajntal A, Gonzalez CH, Koiffmann CP, de Souza DH. 1985. Brief cytogenetic report on maternal translocation t(7;9)(p22;p13): two sibs with duplication 9p and one sib with the balanced translocation. Am J Med Genet 20:265-269.
32. Wilson GN, Raj A, Baker D. 1985. The phenotypic and cytogenetic spectrum of partial trisomy 9. Am J Med Genet 20:277-282.
33. Yeatman GW, Riccardi VM. 1976. Partial trisomy of chromosome 14:(+14q-). BD: OAS XII(5):119-124.
34. Young RS, Reed T, Hodes ME, Palmer CG. 1982. The dermatoglyphic and clincial features of the 9p trisomy and partial 9p monosomy syndromes. Hum Genet 62:31-39.