Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Constance E. Clark"'
Publikováno v:
Clinical Genetics. 17:428-432
A de novo partial 13q monosomy is reported in a severely affected 8-year-old female with the karyotype 46,XX,del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, p
Autor:
Mary A. Telfer, Ali Kalamchi, Nina L. Steg, Henry R. Cowell, Constance E. Clark, John M. Opitz
Publikováno v:
American Journal of Medical Genetics. 11:37-42
We describe a 19-year-old woman who has a duplication of 4p. The karyotype is 46,XX, - 14, + der(14),t(4;14) (p15;p12)mat in lymphocytes and skin fibroblasts. The patient has coarse hair, prominent forehead and tip of nose, coloboma, scoliosis, and m
Publikováno v:
American Journal of Medical Genetics. 5:171-178
Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25 leads to 6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whos
Publikováno v:
American Journal of Medical Genetics. 12:57-62
We report a girl with shortness of stature and minor anomalies representing a mild form of the Ullrich-Turner syndrome. Cytogenetic studies showed 3 distinct anomalies: 1) a familial pericentric inversion, inv(3) (p25q21)pat, in all cells examined; 2
Publikováno v:
American journal of medical genetics. 7(1)
Publikováno v:
Clinical genetics. 20(1)
A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY, + 8 chromos
Autor:
Constance E. Clark, Pamela A. Casey
Publikováno v:
American Journal of Medical Genetics. 5:421-422
Autor:
Henry R. Cowell, Constance E. Clark
Publikováno v:
Clinical Orthopaedics and Related Research. :4
Patients with orthopedic problems may also have chromosomal abnormalities. Individuals who present with subtle clinical findings suggestive of a known syndrome resulting from a chromosomal abnormality, such as Klinefelter syndrome, Turner syndrome, o