Information on the clinical symptoms and features is taken from the Human Phenotype Ontology database and the Unique database. All affected individuals needn't show all the symptoms. Some of the most noted features are: * Intellectual and Learning Disabilities * Speech delay * Early puberty * Significant weight and height problems * Lower-extremity anomalies (anomalies of the legs and/ or feet) * Epileptic Seizures * Unusual pattern of EEG with centro-temporal focal spike waves in children * Minor facial features Intellectual and Learning Disabilities Among people who need support with their learning, at least 3% are believed to carry the<unk> . It is noted that affected members of the same family with the same<unk> .2 microduplication generally have similar learning profiles. Children with small<unk> s of 0.5-1.3 Mb seem to have a mild learning difficulty, while others with the typical<unk>  of around 4.5 Mb generally have a borderline, mild or moderate learning disability. An extreme case with a very large<unk>  of 55 Mb has shown to have a severe intellectual disability. Speech Delay Speech is very commonly affected and usually the first sign. Both speech and comprehension seem to be affected, to various degrees of extent. Low facial muscle tone underlies difficulty in making certain sounds of speech. Nasal or hoarse voice are also observed. Babies are known to be unable to suck from breast in their infancy due to weak facial muscles. Early Puberty Early puberty occurs in 80% of the affected children or adults, with girls starting their menstrual cycles as early as age 9 and boys showing signs of puberty at age 8.5. One boy from Unique had completed puberty by age 13. Weight problems Affected children show tendency to be overweight. This might indicate metabolism issues. Lower-extremity Anomalies Anomalies of lower limbs or feet are common in people with an<unk> , affecting about 71% cases. Features include flat feet, arched feet (pes cavus), clubfoot (talipes), narrow feet, webbed or joined toes/fingers (syndactyly), 5th finger clinodactyly, 5th toe hypoplasia, and tapering fingers. Unusual EEG Pattern A typical pattern of electrical activity in the brain of affected children, described as ‘subclinical seizures’ has been noted. A peculiar electroencephalographic pattern characterized by rolandic-like spikes and/or continuous spike wave during slow sleep (CSWS), also called centro-temporal focal spike, exists in childhood. Minor Facial Features The common unusual features include a short or flat groove between the nose and upper lip (philtrum), a large, high or deep nasal bridge, bushy eyebrows and/or uni-brow (synophrys), and thin lips.
Xp11.2 duplication
Chromosome 2q deletion
2q37 monosomy
Chromosome 15q partial deletion
Partial monosomy 13q
Distal trisomy 10q
Tetrasomy 18p
Chromosome 15q trisomy