Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Amalia Pérez-Castillo"'
Publikováno v:
Human Genetics. 37:87-91
A 5-day-old male child presenting some features of Wolf syndrome is studied. The analysis of his karyotype by usual techniques showed a ring chromosome of B group. This chromosome was presnt in most of the cells examined. By GTG banding it was identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce88774628a310fb436d0ad97bcb36c
https://doi.org/10.1007/bf00293777
https://doi.org/10.1007/bf00293777
Publikováno v:
Human Genetics. 42:327-331
This paper reports the case of a one-day-old male child presenting the typical features of Patau's syndrome. The cytogenetic study by means of conventional techniques and GTG and QFQ banding techniques showed that the chromosomal pattern of the propo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c91ef0e56123c3f72b5162ed3ae6dd
https://doi.org/10.1007/bf00291315
https://doi.org/10.1007/bf00291315
Autor:
M. Luisa de Torres, J. del Mazo, J. A. Abrisqueta, M. José Martín, Amalia Pérez-Castillo, V. Aller, M. Angeles Martín Lucas
Publikováno v:
Human Genetics. 44:105-108
A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16 leads to q35) was determined. The characteristics of the child's karyotype and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5e1bed63817dff07781f74fb85d747
https://doi.org/10.1007/bf00283580
https://doi.org/10.1007/bf00283580
Autor:
J. del Mazo, J. A. Abrisqueta, M. A. Martín-Lucas, M. L. de Torres, Amalia Pérez-Castillo, V. Aller
Publikováno v:
Human Genetics. 51:157-162
An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3bb1a9947c007bfafc1aa7e72392fa1b
https://doi.org/10.1007/bf00287170
https://doi.org/10.1007/bf00287170
Publikováno v:
Human Genetics. 62:316-320
The Q-band heteromorphisms of chromosome 21 were used in a sample of 48 families with a Down's syndrome child to evaluate the origin of non-disjunction. The parental origin and the meiotic error were determined in 27 families, and in eight families o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea641171dfb77d172b7d3e56383c305d
https://doi.org/10.1007/bf00304546
https://doi.org/10.1007/bf00304546
Autor:
M. A. Martín-Lucas, J. del Mazo, M. L. de Torres, V. Aller, Amalia Pérez-Castillo, J. A. Abrisqueta
Publikováno v:
Human genetics. 46(2)
A new case of trisomy 10p has been identified by means of the GTG-banding technique. The patient is a female child carrying a sporadic translocation, t(10;13)(p11;p11), and affected by microsomatia and microcephaly with facial dysmorphia, retarded gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a767c6e1895a4dcd9d0280746a938e
https://pubmed.ncbi.nlm.nih.gov/422195
https://pubmed.ncbi.nlm.nih.gov/422195
Autor:
Clara Goday, V. Aller, J. del Mazo, Amalia Pérez-Castillo, J. A. Abrisqueta, M. A. Martín-Lucas
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
The case of a 21/2-month-old male child with intrauterine distrophy features and multiple congenital malformations is presented. Cytogenetic studies of the child and his parents, completed with Q- and G-banding techniques led us to conclude that it i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c027dfb91bc7f55a1a2b8004be0d5e90
http://hdl.handle.net/10261/253017
http://hdl.handle.net/10261/253017
Publikováno v:
Human genetics. 67(2)
A 3-month-old boy with true microcephaly showed the same balanced reciprocal translocation 1q4p as his carrier mother. This reciprocal translocation had been transmitted for at least four generations. Different banding techniques allowed one to descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962bc48276a5f8dcde7dffc5a3e47367
https://pubmed.ncbi.nlm.nih.gov/6745946
https://pubmed.ncbi.nlm.nih.gov/6745946
Publikováno v:
Cytogenetic and Genome Research. 39:237-237
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10adb6cbf6df10b5b44f64b9a560212
https://doi.org/10.1159/000132143
https://doi.org/10.1159/000132143