Kleefstra syndrome

Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.

Increased nuchal translucency

The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).


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PMID (PMCID)
24055486
 FEMALE Adult
3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.
Chen CP, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W.
Gene. 2013;532(1):80-6.
We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal screening and facial dysmorphism with distinct features of the 3q duplication syndrome and Kleefstra syndrome.