[Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 695-698, 2017 Oct 10.
Article
em Zh
| MEDLINE
| ID: mdl-28981936
ABSTRACT
OBJECTIVE:
To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.METHODS:
Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities.RESULTS:
The child had mental retardation, maxillofacial dysmorphism on the right side, and irregular solid nodules on the back. The karyotypes of the child and his parents were all normal, while aCGH has identified a de novo constitutive 1.2 Mb deletion at 17q11.2 in the child. The aCGH results of his parents were normal.CONCLUSION:
The de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Smith-Magenis
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2017
Tipo de documento:
Article