Detalles de la búsqueda
1.
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
Genet Couns
; 23(4): 447-55, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23431743
2.
De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.
Genet Couns
; 23(4): 497-503, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23431751
3.
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.
Genet Couns
; 23(3): 359-65, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23072183
4.
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
Genet Couns
; 23(2): 195-200, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876577
5.
Pure distal 9p deletion in a female infant with cerebral palsy.
Genet Couns
; 23(2): 215-21, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876580
6.
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
Genet Couns
; 23(2): 223-9, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876581
7.
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.
Genet Couns
; 23(3): 405-13, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23072190
8.
Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
Genet Couns
; 22(4): 425-30, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22303804
9.
A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.
Genet Couns
; 22(3): 255-61, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029166
10.
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.
Genet Couns
; 22(3): 273-80, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029168
11.
A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene.
Genet Couns
; 24(2): 243-6, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24032297
12.
Prenatal diagnosis of Dandy-Walker malformation associated with distal limb deficiencies.
Genet Couns
; 18(3): 343-7, 2007.
Artículo
en Inglés
| MEDLINE | ID: mdl-18019377
13.
Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome).
Genet Couns
; 18(1): 49-56, 2007.
Artículo
en Inglés
| MEDLINE | ID: mdl-17515300
14.
24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
Eur J Med Genet
; 49(6): 516-9, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-16769261
15.
Direct transmission of the 18q- syndrome from mother to daughter.
Genet Couns
; 17(2): 185-9, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-16970036
16.
Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome.
Genet Couns
; 22(1): 79-83, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21614993
17.
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay.
Genet Couns
; 22(3): 321-6, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029176
18.
Self-injurious behavior associated with trisomy 9p (9p13.1 --> p24.3).
Genet Couns
; 22(3): 327-31, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029177
19.
Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features.
Genet Couns
; 21(2): 263-7, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20681230
20.
Prenatal diagnosis of partial monosomy 1q (1q42.3-qter) associated with hydrocephalus and corpus callosum agenesis.
Genet Couns
; 21(4): 451-5, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-21290974