Distal trisomy 11q

Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.

Also known as: Chromosome 11, Partial Trisomy 11q, distal duplication 11q, distal trisomy type 11q, telomeric duplication 11q, trisomy 11qter

0 clinical trials for this condition and its sub-types, 0 tagged with Distal trisomy 11q itself.