Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Pamela A. Casey"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08fded90748341488a61f023154f7276
https://doi.org/10.1111/j.1399-0004.1980.tb00175.x
https://doi.org/10.1111/j.1399-0004.1980.tb00175.x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edc56c886bc065e7017c12c57f957f57
https://doi.org/10.1002/ajmg.1320050211
https://doi.org/10.1002/ajmg.1320050211
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48297b255ac89d66cbcda66973b21e4b
https://doi.org/10.1002/ajmg.1320120108
https://doi.org/10.1002/ajmg.1320120108
Autor:
Errol Ger, Pamela A. Casey
Publikováno v:
The Hand. 11(1)
Dermatoglyphic abnormalities have been found in patients with arthrogryposis multiple congenita. These unusual features, which appear to be pathognomonic, indicate an early prenatal pathogenesis and may aid in differential diagnosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08bd5b0cfdce7641c294b5cb2ccd206c
https://pubmed.ncbi.nlm.nih.gov/488775
https://pubmed.ncbi.nlm.nih.gov/488775
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d8ddcbf42ad95fd56f1d51685b0da9
https://pubmed.ncbi.nlm.nih.gov/7296950
https://pubmed.ncbi.nlm.nih.gov/7296950
Autor:
Constance E. Clark, Pamela A. Casey
Publikováno v:
American Journal of Medical Genetics. 5:421-422
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d065cde0e377c32a5b818e3374680990
https://doi.org/10.1002/ajmg.1320050412
https://doi.org/10.1002/ajmg.1320050412