What does 7q11.23 means?

7q11.23 duplication syndrome is a developmental disorder resulting from an extra copy of ~25 genes on the long arm of chromosome 7. Individuals who have7q11.23 duplication syndrome have 3 copies of the genes in this region. In contrast, people in the general population have two copies of these genes. 7q11.23duplication syndrome is sometimes referred to as "duplication of the Williams syndrome region" or "Williams syndrome duplication." Williams syndrome is caused by a deletion of 7q11.23; thus people who have Williams syndrome have only one copy of the genes in this region. 7q11.23 duplication syndrome and Williams syndrome are associated with very different patterns of cognitive, linguistic, and behavioral strengths and weaknesses.

Although the existence of 7q11.23 duplication syndrome has been hypothesized for decades, the first person who had this syndrome was not identified until late 2004. Research on 7q11.23 duplication syndrome began immediately, and as a result of this research, several features that appear to be characteristic of the syndrome have been identified. The intellectual level of individuals with 7q11.23 ranges from moderate intellectual disability to above average intelligence. Almost all children who have this syndrome have significant expressive speech and language delay. Speech difficulties range from mild problems that are consistent with a speech delay rather than a speech disorder to severe difficulties rendering the child's speech extremely difficult or impossible to understand. Some of the children have childhood apraxia of speech and/or oral apraxia. Signs of these disorders include difficulty planning movements of the mouth, resulting in oral groping and/or effortful, choppy speech, with accompanying difficulties in expressive language and sometimes literacy. Many of the children who do not have apraxia still show some features of that disorder. Receptive language is often stronger than expressive language. Many children speak in very short utterances and often leave out grammatical markers (e.g., past tense "-ed," copula "is").

7q11.23 duplication syndrome is associated with distinctive behavioral characteristics. The majority of children with this syndrome have separation anxiety disorder and/or social phobia, and many also have specific phobia (e.g., of particular types of animals). Attention deficit hyperactivity disorder (ADHD) iscommon, and many children also have significant behavior problems such as oppositional defiant disorder (ODD). The separation anxiety and social phobia may be secondary to the speech and expressive language problems that almost all children with 7q11.23 duplication syndrome have, and the ODD may be secondary to the separation anxiety and/or social phobia. Despite these behavioral difficulties, children with 7q11.23 duplication syndrome are often very sweet, demonstrate good imaginative and creative play skills, and have an Excellent sense of humor.