Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ceres E. Espiritu"'
Autor:
Harold Chen, William Simpson, Ceres E. Espiritu, Kaz Mayeda, Anant Bhogaonker, Michael Tyrkus, Flossie Cohen, Paul V. Woolley
Publikováno v:
Clinical Genetics. 9:631-637
Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6) (q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with
Publikováno v:
Clinical Genetics. 9:454-458
In an 11-year-old girl with multiple congenital abnormalities and mental retardation, an extra, small, metacentric chromosome was identified by banding methods as a deleted chromosome No. 17. This represents the first reported case of partial trisomy
Autor:
John M. Opitz, Mario Gonzalez-Ramos, Leonard O. Langer, N. Warn Courtney, Ceres E. Espiritu, Harold Chen
Publikováno v:
European Journal of Pediatrics. 123:29-38
This paper describes 3 infants with a severe, generalized chondrodysplasia with short limbs, shortness of stature, relative micrognathia and neonatal respiratory distress in all cases, cleft palate in two and dislocation of lenses in one. They diet a
Publikováno v:
American journal of diseases of children (1960). 129(3)
Pedigree analysis in this kindred is compatible with an autosomal dominant inheritance. The parents and three other family members have clinical and radiological features of dyschondrosteosis. The two propositi, a boy and a girl, have mesomelic dwarf
Publikováno v:
Journal of medical genetics. 10(2)
Low birth weight dwarfism with mental retardation, large eyes, a beaklike nose, narrow face, receding mandible, and dental anomalies are the specific features of `bird-headed dwarf of Seckel'. The following case report presents details of a Seckel dw
Autor:
Ceres E. Espiritu, Ingeborg Krieger
Publikováno v:
Archives of Pediatrics & Adolescent Medicine. 123:141
We report a genetically determined syndrome of arthrogryposis multiplex congenita, pterygium formation, and facial features of the Turner phenotype in two boys and two girls, including a pair of siblings.
Publikováno v:
Archives of Pediatrics & Adolescent Medicine. 122:535
An infant had typical clinical symptoms of trisomy D 1 and a rare DqDq tandem translocation. Our patient can be compared with two other previously reported cases. His mother has increased breakages of chromosomes. His father, maternal grandfather, an