Hostname: page-component-586b7cd67f-rdxmf Total loading time: 0 Render date: 2024-11-23T13:36:17.404Z Has data issue: false hasContentIssue false

47,XX, + 13/46,XX Mosaicism: A Case Report

Published online by Cambridge University Press:  01 August 2014

S.P.A. Toledo*
Affiliation:
Department of Medicine, Clinic Hospital, University of São Paulo, São Paulo, SP, Brasil
A. Wajntal
Affiliation:
Laboratory of Medical Genetics, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brasil
*
P.O. Box 8091, São Paulo, SP, Brasil

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

We described a D1 trisomy syndrome patient who had a normal 46,XX cell line and 15.4% of lymphocytes with a 47,XX,+D chromosome constitution as an occasion to review normal trisomy 13 mosaicism.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1977

References

REFERENCES

Bain, A.D., Insley, J., Douglas, D.M., Gauld, I.K., Scott, H.A. 1965. Normal/trisomy 13-15 mosaicism in two infants. Arch. Dis. Child., 40: 442445.Google Scholar
Beçak, W., Beçak, M.L., Andrade, J.D. 1964. A genetical investigation of congenital analgesia. I. Cytogenetic studies. Acta Genet. (Basel), 14: 133142.Google ScholarPubMed
Berger, R. 1973. Anomalies chromosomiques a la naissance. In Bone, A. and Thibault, C. (eds.); Les Accidents Chromosomiques de la Reprodution. Inserm Colloquium (pp. 6780). Paris.Google Scholar
Berger, S.A., Novack, S.N., Russotto, J.A. 1973. D-group chromosomal mosaicism. JAMA, 226: 11101111.Google Scholar
Betke, K., Marti, H.R., Schlicht, I. 1959. Estimation of small percentages of foetal haemoglobin. Nature, 184: 18771888.CrossRefGoogle Scholar
Cohen, M.M. Jr., Jirasek, J.E., Guzman, R.T., Gorlin, R.J., Peterson, M.Q. 1971. Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects, 7: 125135.Google Scholar
Conen, P.E., Erkman, B. 1966. Frequency and occurrence of chromosomal syndromes. I. D-trisomy. Am. J. Hum. Genet., 18: 374386.Google Scholar
Craig, A.P., Luzzatti, L. 1967. Translocation in trisomy D syndrome. J. Pediatr., 70: 264269.Google Scholar
Dallaire, L., Clarke-Fraser, F., Wiglesworth, F.W. 1971. Familial holoprosencephaly. Birth Defects, 7: 136142.Google Scholar
DeMeyer, W., Zeman, W. 1963. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin. Neurol. (Basel), 23: 136.Google Scholar
DeMeyer, W., Zeman, W., Palmer, C.G. 1963. Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: report of patient with 46 chromosomes. Neurology, 13: 913918.Google Scholar
DeMeyer, W., Zeman, W., Palmer, C.G. 1964. The face predicts the brain: diagnostic significance of the median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics, 34: 256263.Google Scholar
Domingo-Sanz, L.A. 1966. Trisomias 13-15 y cardiopatias. Rev. Esp. Pediatr., 22: 185192.Google Scholar
Engel, E., Haddow, J. E., Lewis, J. F., Tipton, R. E., Overall, J.C., McGee, B.J., Levrat, O.J., Montmollin, M.E. 1967. Three unusual trisomic patterns in children. Am. J. Dis. Child., 113: 322328.Google Scholar
Forteza, G., Baguena, R., Amat, E., Garcia, D., Juan, A. 1964. Mosaico trisomia D1/normal en una niña de seis años con un sindrome de trisomia Dt incompleto. Med. Esp., 51: 8393.Google Scholar
Gerald, P.S. 1969. Studies on chromosome 13. Birth Defects, 5: 8891.Google Scholar
Green, J.R., Krovetz, L.J., Taylor, W. J. 1968. Two generations of 13-15 chromosomal mosaicism: possible evidence for a genetic defect in the control of chromosomal replication. Cytogenetics, 7: 286297.Google Scholar
Huehns, E.R., Hecht, F., Keil, J.V., Motulsky, A.G. 1964. Developmental hemoglobin anomalies in a chromosomal triplication: D1 trisomy syndrome. Proc. Natl. Acad. Sci. USA, 51: 8997.Google Scholar
Jacobs, P.A., Melville, M., Ratcliffe, S. 1974. A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet., 37: 359376.Google Scholar
Jonxis, J.H.P., Visser, H.K.A. 1956. Determinations of low percentages of fetal hemoglobin in blood of normal children. Am. J. Dis. Child., 92: 588591.Google Scholar
Lee, C.S.N., Boyer, S.H., Bowen, P., Weatherall, D.J., Rosenblum, H., Clark, D.B., Duke, J.R., Liboro, C., Bias, W., Borgaonkar, D.S. 1966. The Dx trisomy syndrome: three subjects with unequally advancing development, wull. Hopkins Hosp., 118: 374394.Google Scholar
Lehmann, H., Huntsman, G. 1974. Man's Haemoglobins (pp. 273283). Amsterdam: North-Holland, Publ. Co. Google Scholar
Magenis, R.E., Hecht, F., Milham, S. Jr. 1968. Trisomy 13 (D1 syndrome: studies on parental age, sex ratio, and survival. J. Pediatr., 73: 222228.Google Scholar
Marshall, R., Newnham, R.E., Rawstron, J.R., Ellis, J.R., Stevens, L.J. 1964. Features of 13-15 trisomy syndrome with normal karyotype. Lancet, 1: 556.CrossRefGoogle Scholar
Moorhead, P.S., Nowell, P.C., Mellman, W.J., Battips, D. M., Hungerford, D.A. 1960. Chromosome preparations of leucocytes cultured from human peripheral blood. Exp. Cell. Res., 20: 613616.Google Scholar
Opitz, J.M., Slungaard, R., Edwards, R.H., Inhorn, S.L., Muller, J., de Venecia, G. 1969. Report of a patient with a pressumed Dq-syndrome. Birth Defects, 5: 9399.Google Scholar
Opitz, J.M., Howe, J.J. 1969. The Meckel syndrome (Dysencephalia splanchnocystica - The Gruber syndrome). Birth Defects, 5: 167179.Google Scholar
Patau, K., Smith, D.W., Therman, E., Inhorn, S.L., Wagner, H.P. 1960. Multiple congenital anomaly caused by an extra autosome. Lancet, 1: 790793.Google Scholar
Scouras, J., Cuendet, J. F., Catti, A. 1972. Trisomie 13-15 en mosaique. Bull. Soc. Franc. Ophthalmol., 85: 92100.Google Scholar
Smith, D. W., Patau, K., Therman, E., Inhorn, S.L., De Mars, R.I. 1963. The D1 trisomy syndrome. J. Pediatr., 62: 326341.Google Scholar
Smith, D.W. 1964. Autosomal abnormalities. Am. J. Obstet. Gynecol., 90: 10551077.Google Scholar
Stone, D., Akad, A.S., Noyes, C., Lamson, E. 1966. 13-15 trisomy mosaicism in a normal-looking 14-year-old retarded girl. J. Med. Genet., 3: 142144.Google Scholar
Tato, J.M., De Lozzio, C.B., Valencia, J.I. 1963. Chromosomal study in otosclerosis. Acta Oto-Laryngol., 56: 265270.CrossRefGoogle ScholarPubMed
Taylor, A.I., Polani, P.E. 1964. Autosomal trisomy syndromes, excluding Down's. Guy's Hosp. Rep., 113: 231249.Google Scholar
Taylor, A.I. 1968. Autosomal trisomy syndromes: a detailed study of 27 cases of Edward's syndrome and 27 cases of Patau's syndrome. J. Med. Genet., 5: 227252.Google Scholar
Taylor, M.B., Juberg, R.C., Jones, B., Johnson, W.A. 1970. Chromosomal variability in the D1 trisomy syndrome. Am. J. Dis. Child., 120: 374381.Google Scholar
Therman, E., Patau, K., De Mars, R.I., Smith, D.W., Inhorn, S.L. 1963. Iso/telo D1 mosaicism in a child with a incomplete D1 trisomy syndrome. Port. Acta Biol., 7: 211224.Google Scholar
Toledo, S.P.A., Saldanha, S.G., Laurenti, R., Saldanha, P.H. 1969. Dermatoglifos digitais e palmares de individuos normais da população de São Paulo. Rev. Paul. Med., 75: 110.Google Scholar
Uchida, I.A., Patau, K., Smith, D.W. 1962. Dermal patterns of 18 and D1 trisomies. Am. J. Hum. Genet., 14: 345352.Google Scholar
Uchida, I.A., McRae, K.N., Wang, H.C., Ray, M. 1965. Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita. Am. J. Hum. Genet., 17: 410419.Google Scholar
Warkany, J., Rubinstein, J.N., Soukup, S.W., Curless, M.C. 1962. Mental retardation, absence of patella, other malformations with chromosomal mosaicism. J. Pediatr., 61: 803812.CrossRefGoogle Scholar
Warkany, J., Passarge, E., Smith, L.B. 1966. Congenital malformations in autosomal trisomy syndromes. Am. J. Dis. Child., 112: 502517.Google Scholar
Wilson, M.G., Melnyk, J. 1967. Translocation/normal mosaicism in D1 trisomy. Pediatrics, 40: 842846.Google Scholar