Report of a case with 14q12 triplication and literature review for FOXG1 related diseases / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 671-675, 2017.
Article
Dans Chinois
| WPRIM
| ID: wpr-344199
ABSTRACT
<p><b>OBJECTIVE</b>To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene.</p><p><b>METHODS</b>The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review.</p><p><b>RESULTS</b>The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes. aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene 14orf23.</p><p><b>CONCLUSION</b>For patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes humains de la paire 14
/
Imagerie par résonance magnétique
/
Facteurs de transcription Forkhead
/
Hybridation génomique comparative
/
Variations de nombre de copies de segment d'ADN
/
Trouble du spectre autistique
/
Génétique
/
Déficience intellectuelle
/
Microcéphalie
/
Protéines de tissu nerveux
Type d'étude:
Étude pronostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article
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