Article
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
The journal of obstetrics and gynaecology research - 1 Mar 2018
Guterman Sarah, Hervé Bérénice, Rivière Julie, Fauvert Delphine, Clement Patrice, Vialard François
Abstract excerpt
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone...
Topics
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 9
- Craniofacial Abnormalities
- Female
- Fetal Diseases
- Heart Defects, Congenital
- Humans
- Intellectual Disability
- Phenotype
- Pregnancy
- Prenatal Diagnosis