Trisomy 16q in a female newborn with a de novo x;16 translocation and hypoplastic left heart

American Journal of Medical Genetics

Volumn 82, Issue 2, 1999, Pages 128-131

  Bacino, Carlos A ^a   Lee, Brendan ^a   Spikes, Aimee S ^a   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Hypoplastic left heart; Trisomy 16; Trisomy 16q; X chromosome; X inactivation; X autosome translocations

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME TRANSLOCATION X; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; MALE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; TRISOMY; X CHROMOSOME INACTIVATION;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; DOSAGE COMPENSATION, GENETIC; FEMALE; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; TRANSLOCATION, GENETIC; TRISOMY; X CHROMOSOME;

EID: 0033555449     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990115)82:2<128::AID-AJMG5>3.0.CO;2-4     Document Type: Article

References (36)

1. Balestrazzi P, Giovannelli G, Landucci Rubini L, Dallapiccola B. 1979. Partial trisomy 16q resulting from maternal translocation. Hum Genet 49:229-235.
2. Boué J, Boué A, Lazar P. 1975. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 12:11-26.
3. Buckton KE, Barr DGD. 1981. Partial trisomy for long arm of chromosome 16. J Med Genet 18:483.
4. Calva P, Frias S, Carnevale A, Reyes P. 1984. Partial trisomy 16q resulting from maternal translocation 11p/16q. Ann Génét 27:122-125.
5. Cattanach BM. 1975. Control of chromosome inactivation. Ann Rev Genet 9:1-18.
6. Davison EV, Beesley JR. 1984. Partial trisomy 16 as a result of a familial 16;20 translocation. J Med Genet 21:384-386.
7. Disteche CM, Swisshelm K, Forbes S, Pagon RA. 1984. X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum Genet 66:71-76.
8. Dowman C, Lockwood D, Allanson J. 1989. Familial translocation t(9;16). J Med Genet 26:525-528.
9. Eriksson B, Fraccaro M, Hultén M, Lindstein J, Thorén C, Tiepolo L. 1971. Structural abnormalities of chromosome 18. II- Two familial translocations. B/18 and 16/18, ascertained through unbalanced forms. Ann Génét 14:275-280.
10. Ferencz C, Boughman JA. 1993. Congenital heart disease in adolescent and adults. Teratology, genetics and recurrence risks. Cardiol Clin 11: 557-567.
11. Francke U. 1972. Quinacrine mustard fluorescence of human chromosomes: Charcaterization of unusual translocations. Am J Hum Genet 24:189-213.
12. Garau A, Crisponi G, Peretti D, Vanni R, Zuffardi O. 1980. Trisomy 16q21→qter. Hum Genet 53:165-167.
13. Greally JM, Neiswanger K, Cummins JH, Boone LY, Lenkey SG, Wenger SL, Lewis JL, Fischer D, Paul RA, Steele MW. 1996. A molecular anatomical analysis of mosaic trisomy 16. Hum Genet 98:86-90.
14. Hahm SYE, Chitayat D, Iqbal MA, Cho S, Nitowsky HM. 1987. Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review. Clin Genet 31:343-348.
15. Hassold T , Jacobs PA. 1984. Trisomy in man. Ann Rev Genet 18:69-97.
16. Hatanaka K, Ozaki M. Susuki M, Murata R, Fujita H., 1984. Trisomy 16q13qter in an infant from a t(11;16)(q25;q13) translocation carrier father. Hum Genet 65:311-315.
17. Heard E, Avner P. 1994. Role play in X-inactivation. Hum Molec Genet 3:1481-1485.
18. Hellkuhl B, de la Chapelle A, Grzeschik KH. 1982. Different patterns of X chromosome inactivity in lymphocytes and fibrohlasts of human balanced X;autosome translocation. Hum Genet 60:126-129.
19. Hirai S, Ujiie J, Suzuki J, Hishiyama S. Tsukanishi A, Muramoto J, Kano H, Suzuki H. 1981. Duplication of the long arm of chromosome 16. Jpn J Pediatr 34:1963-1967.
20. Latt SA. 1973. Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes. Proc Natl Acad Sci USA 70:3395-3399.
21. Latt SA, Stetten G, Juergens LA. Willard HF, Sher CD. 1975. Recent developments in the detection of deoxyribonucleic acid synthesis by 33258 Hoechst fluorescence. J Histochem Cytochem 23:493-505.
22. Lessick ML, Israel J, Wong PWK, Szego K. 1989. Partial trisomy 16q secondary to a maternal 9;16 translocation. J Med Genet 26:63-64.
23. Lyon MF. 1961.Gene action in the X chromosome of the mouse. Nature 190:372-373.
24. Mattei MG. Mattei JF, Giraud F, Ayme S. 1982. X-autosome translocations: Cytogenetic characteristics and their consequences. Hum Genet 61:295-309.
25. Migeon BR. 1994. X-chromosome inactivation: Molecular mechanisms and genetic consequences. Trends Genet 10:230-235.
26. Natowicz M, Chatten J, Clancy R, Conrad K, Glauser T, Huff D, Lin A, Norwood W. Rorke LB, Uri A, Weinberg P, Zackai E, Kelley RI. 1988. Genetic disorders and major extra cardiac anomalies associated with the hypoplastic left heart syndrome. Pediatrics 82:698-706.
27. Nevin NC, Coffey WW, Nevin J, MCC Reid M. 1983. Partial trisomy 16q in two boys resulting from a maternal translocation, t(15;16)(p12;q11). Clin Genet 24:375-379.
28. Pérez Castillo A, Martin-Lucas MA, Abrisqueta JA. 1991 Duplication 16q12→qter arising from 3:1 segregation in a 46,XX,t(13;16)(q12;q12) mother. Ann Génét 33:121-123.
29. Rethoré MO, Lafourcade J, Couturier J, Harpey JP, Hamet M, Engler R, Alcindor LG, Lejeune J. 1982. Augmentation d'activité de l'adénine phosphoribosyl transférase chez un enfant trisomique 16q22.2 →16qter par translocation t(16;21)(q22.2;q22.2)pat. Ann Génét 25:36-42.
30. Ridler MAC, McKeown JA. 1979. Trisomy 16q arising from a maternal 15p;16q translocation. J Med Genet 16:317-319.
31. Riggs AD. 1992. X-chromosome inactivation and cell memory. Trends Genet 8:169-174.
32. Russell LB. 1963. Mammalian X-chromosome action: inactivation limited in spread and in region of origin. Science 140:976-978.
33. Savary JB, Vasseur F, Manouvrier S, Daudignon A, Lemaire O, Thieuleux M, Poher M, Lequien P, Deminatti MM. 1991. Trisomy 16q23→qter arising from a maternal t(13;16)(p12;q23): Case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique. Hum Genet 88:115-118.
34. Schmidt M, Du Sart D. 1992. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet 42:161-169.
35. Shaffer LG, McCaskill C, Han JY, Choo KHA, Cutillo DM Donnenfeld AE, Weiss L, Van Dyke DL. 1994. Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968-974.
36. Therman E, Sarto GE, Patau K. 1974. Center for Barr body condensation on the proximal part of the human Xq: a hypothesis. Chromosoma 44:361-366.