Trisomy 18p

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


合計: 3

                       


（表示件数）
PMID (PMCID)
30939474
 FEMALE Young Adult
Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability.
Yu Y, Jiang Y, Hu X, Zhang H, Liu R, Wang R.
Cytogenet Genome Res. 2019;157(4):220-226.
Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability.
30939474
 FEMALE Young Adult
Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability.
Yu Y, Jiang Y, Hu X, Zhang H, Liu R, Wang R.
Cytogenet Genome Res. 2019;157(4):220-226.
Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability.
26042156
(4453045)
 OTHER
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.
Jedraszak G, Copin H, Demailly M, Quibel C, Leclerc T, Gallet M, Benkhalifa M, Receveur A.
Mol Cytogenet. 2015;8:34.
We report on a patient carrying an isolated complete trisomy 18p translocated to the short arm of chromosome 14 and presenting with facial dysmorphism, mild intellectual disability and non-obstructive azoospermia.