Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 682-685, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-771940
ABSTRACT
OBJECTIVE@#To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy.@*METHODS@#Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration.@*RESULTS@#Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q.@*CONCLUSION@#The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Diagnostic prénatal
/
Translocation génétique
/
Chromosomes humains de la paire 4
/
Chromosomes humains de la paire 6
/
Hybridation fluorescente in situ
/
Syndrome de Wolf-Hirschhorn
/
Génétique
/
Caryotypage
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Bébé
/
Mâle
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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