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First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review
Author(s) -
Guterman Sarah,
Hervé Bérénice,
Rivière Julie,
Fauvert Delphine,
Clement Patrice,
Vialard François
Publication year - 2018
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.13517
Subject(s) - medicine , hypotonia , phenotype , genetics , intellectual disability , haploinsufficiency , prenatal diagnosis , bioinformatics , gene , fetus , pediatrics , pregnancy , biology , psychiatry
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 methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review.