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A case of Cri-du-chat Syndrome with karyotype del (5) (p14), +mar
Lília Maria de Azevedo MoreiraI; Lucy Magalhães de FreitasI; Lucy Isabel da Silva PeixotoI; Maria das Graças de Freitas SousaII+; Maria de Lourdes Bastos de SouzaIII
IDepartamento de Biologia
Geral, Instituto de Biologia, Universidade Federal da Bahia, Campus de Ondina,
40170-290 Salvador, BA, Brasil. Fax: (071) 245-6909. Send correspondence to
L.M.A.M.
IIFaculdade de Medicina, Departamento de Medicina Preventiva, Universidade
Federal da Bahia, 40110-160 Salvador, BA, Brasil
IIIClinica Dr. Samarão Brandão, Ondina, 40170-290 Salvador,
BA, Brasil
+Deceased
ABSTRACT
The karyotype 47,XX, del(5) (p14), +mar, de novo was found in a girl with Cri-du-chat Syndrome. The phenotypic abnormalities appear to have no relationship with the marker chromosome.
Keywords: Cri-du-chat Syndrome; karyotype.
REFERENCES
Callen, D.F., Ringenberg, M.L., Flowler, J.C.S., Freemantle, C.J. and Haan, E.A. (1990). Small marker chromosome in man: origin from pericentric heterochromatin of chromosomes 1, 9 and 16. J. Med. Genet. 27: 155-159.
ISCN 1985: an International System for Human Cytogenetic Nomenclature (1985). Report of the Standing Committee on Human Cytogenetic Nomenclature. S. Karger, Basel.
Kosztolakyi, G. (1987). Does "ring syndrome" exist? An analysis of 20 case reports on patients with a ring autosome. Hum. Genet. 75: 174-179.
Niebuhr, R. (1978a). The Cri-du-chat syndrome, epidemiology, cytogenetics, and clinical features. Hum. Genet. 44: 227-275.
Niebuhr, R. (1978b). Cytologic observations in 35 individuals with 5p-karyotype. Hum. Genet. 42: 143-156.
Overhauser, J., Beaudet, A.L. and Wassmuth, J.J. (1986). A fine structure physical map of the short arm of chromosome 5. Am. J. Hum. Genet. 39: 562-575.
Wilkins, L.E., Brown, J.A. and Wolf, B. (1980). Psychomotor development in 65 home-reared children with cri-du-chat syndrome. J. Pediat. 97: 401-405.
Wilkins, L.E., Brown, J.A., Nance, W.E. and Wolf, B. (1983). Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome. J. Pediat. 102: 528-533.