Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ronald D. Smart"'
Publikováno v:
Clinical Genetics. 42:105-109
Complete monosomy 21 is claimed to be a rare chromosomal disorder in which the cytogenetic investigation is bedevilled by technical difficulties. We describe the disparate clinical features in two patients in whom an initial diagnosis of monosomy 21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c681af06a1c81d30c4df89420ed96f6
https://doi.org/10.1111/j.1399-0004.1992.tb03219.x
https://doi.org/10.1111/j.1399-0004.1992.tb03219.x
Autor:
Ronald D. Smart, Jack Goldblatt
Publikováno v:
Clinical Genetics. 29:434-438
We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d524a4e86ff3687e98fd22b1b11952
https://doi.org/10.1111/j.1399-0004.1986.tb00517.x
https://doi.org/10.1111/j.1399-0004.1986.tb00517.x
Publikováno v:
Clinical Genetics. 23:311-317
A large Indian kindred in which the fragile X chromosome is segregating has been investigated in Cape Town. Eight male hemizygotes and four female heterozygotes were mentally retarded. There is suggestive evidence that one deceased male of reportedly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f931ff770cfd9d9ac1b7e9c933f60ca
https://doi.org/10.1111/j.1399-0004.1983.tb01883.x
https://doi.org/10.1111/j.1399-0004.1983.tb01883.x
Publikováno v:
American Journal of Medical Genetics. 24:269-272
One fetus is described with cyclopia and associated abnormalities as a result of an unbalanced translocation involving chromosomes 7 and 18 [46XX, del 7, rcp(7;18)(q34;21)]. The parents had had a previous infant described as having possible holoprose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1119eb2cfd90addf09fa559ff0ac009
https://doi.org/10.1002/ajmg.1320240207
https://doi.org/10.1002/ajmg.1320240207
Publikováno v:
American Journal of Medical Genetics. 31:947-951
A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other doc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2f8da26809e0b2c4349a06884cb11e2
https://doi.org/10.1002/ajmg.1320310430
https://doi.org/10.1002/ajmg.1320310430