What is 7q11.23 Duplication syndrome?

7q11.23 Duplication Syndrome is a rare genetic condition caused by the duplication (extra copies) of the “Williams-Beuren Critical Region” (WBCR). The WBCR contains approximately 26-28 genes along chromosome 7 of our DNA. Some individuals may have a complete duplication or partial (micro-duplication) within this gene region. The genetic micro-array report will be helpful in identifying these details and can be discussed with your physician directly. 7q11.23 Duplication is a developmental disorder and a multi-disciplinary assessment is required in order to determine “how” the individual is affected.

How is 7q11.23 Duplication different from 7q11.23 Deletion or Williams Syndrome?

It should be noted that 7q11.23 Duplication Syndrome is distinctively different to Williams Syndrome. Both are rare genetic disorders affecting the same gene region, however Williams Syndrome is the DELETION of 7q11.23 and our children have the DUPLICATION. They are considered the “genetic reciprocal” of each other with contrasting clinical presentation of common features and medical conditions.

Williams Syndrome is supported by the “Williams Syndrome Association” and presently, we remain as separate organizations. However, some members of Duplication Cares have joined both organizations depending on their country and availability of resources etc. Duplication Cares supports our members in joining both organizations as it is recognized that a partnership is valued for promotion of awareness, acceptance and support within our medical and educational communities.

As parents and/or family care providers, it will be important to correctly identify the diagnosis as 7q11.23 Duplication as the majority of the medical community is unfamiliar with the condition. It is recommended the parent(s)/care givers become informed and educated on 7q11.23 Duplication, as we will be our children’s best advocate. Please refer to the resource section for further reading on 7q11.23 Duplication and print documents to share. Also feel free to ask us questions and connect on Facebook with the Duplication Cares – 7q11.23 Private Support Group. Registration with Duplication Cares is free. Registration is also required in order to join both the Facebook Group or to view Newsletters on this site or the Find Other Family information.

What other diagnostic names are used to reference 7q11.23 Duplication?

The most commonly accepted diagnostic name is known as 7q11.23 Duplication (Syndrome). However, there have been a number of variations depending on the Country of diagnosis. It has been referenced as follows:

  • Duplication of Williams-Beuren Critical Region (WBCR)
  • Duplication of Williams Syndrome
  • Dup 7
  • 7q Dup

For consistency within the medical community the diagnosis of “7q11.23 Duplication Syndrome” will be used (genetic diagnosis) which also aligns with the medical literature and research. In addition, because there are several diagnoses which occur on the 7th chromosome, it is best to be as specific as possible when talking about the 7q11.23 Duplication.

What are the common features and medical conditions associated with 7q11.23 Duplication?

Currently, researchers have established the following details. As more research takes place on this recently identified syndrome, more information will be made available.  Please refer to the Research section of the website for all of the most recent publications, including the official 7q11.23 Duplication GeneReview.

Common facial features include:

* Broad forehead

* Short philtrum (distance from top of lip to nose)

* Thin upper lip

* Facial asymmetry

* Macrocephaly (larger than normal head circumference)

Psychological, Cognitive, Behavioral features and Medical implications, include:

* Speech and Language delays and/or disorders (such as oral apraxia, verbal apraxia (Childhood Apraxia of Speech), phonological disorder and dysarthria). Speech challenges may also include 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”).

* Developmental delay(s) with milestone activities (crawling, walking, talking, toileting etc.).

* Personalities are often shy and appear withdrawn around strangers.

* Anxiety disorders are most prevalent (such as Social Anxiety, Social Phobia, Selective Mutism, and specific types of phobias such as those surrounding types animals).

* ADHD, Autism Spectrum Disorder and Oppositional Defiance Disorder (ODD) have also been associated. *It is important to be aware that children with 7q11.23 Duplication can often be misdiagnosed as an Autism Spectrum Disorder. We encourage parents to seek appropriate evaluations.

* Intellectual abilities are typically within the low average range, however wide ranges of severity may occur. Appropriate psychological/cognitive testing will be helpful to determine the individual’s learning strengths and weaknesses at school age. Early intervention and ongoing therapies will be important during this period of time.

* Hypotonia (low muscle tone) and motor planning challenges may be associated.

* Visual changes (early vision screening is important) along with regular and routine dental care.

* Cardiac (heart) conditions have recently been identified, most common being Aorta dilation. *It has been highly recommended that all individuals with 7q11.23 Duplication have an echocardiogram (heart ultrasound) to establish a base line. As well, an ultrasound of the kidneys to rule out any deficiencies.

* Seizure related disorders have been associated.

* Cryptorchidism (undescended testicles in males).

Researchers have noted many of the children with 7q11.23 Duplication also have a very sweet personality, demonstrate good imagination and creative play skills and have a great sense of humor (Mervis, C.B., 2011).

What caused the Duplication?

The duplication may have occurred spontaneously (without cause) and known as “de novo” meaning “new alteration” in the genes. The duplication can also be inherited from one of the parents, if they have the confirmed duplicated gene region. 7q11.23 Duplication has a 50% occurrence of being inherited, if one of the parents has the same duplication (this will be relevant for the children diagnosed for their future offspring as well). However, the presentation for each individual will be unique and the severity may vary.

As a parent of a child newly diagnosed with 7q11.23 Duplication, you may request genetic testing for yourself and/or partner. If you are considering additional children, genetic counseling may be discussed with your physician.

History of 7q11.23 Duplication

Although the existence of 7q11.23 duplication syndrome had been hypothesized for decades, the first person identified with the syndrome occurred in late 2004. Research on 7q11.23 Duplication Syndrome began immediately.

Who is currently researching 7q11.23 Duplication?

Dr. Carolyn B. Mervis (and team) from the University of Louisville (Kentucky, USA) are currently studying the psychological, cognitive and behavioral profiles of individuals with 7q11.23 Duplication. Their contributions in the research has been

valuable for all families affected and the medical community abroad. Dr. Mervis (and team) remain in close contact with Duplication Cares.

In addition, Dr. Colleen A. Morris (MD) from the University of Nevada is currently studying the medical conditions associated with 7q11.23 Duplication. We are currently awaiting her most recent published research.

To contact Dr. C. Mervis at the University of Louisville and review her published research papers; please click on the following link: https://louisville.edu/psychology/mervis/lab/research/duplication-syndrome

To contact Dr. C. Morris at the University of Nevada and review her published research papers; please click on the following link: http://medicine.nevada.edu/directory/colleen-morris

For further reading on the first diagnosed case of 7q11.23 Duplication Syndrome: http://www.nejm.org/doi/full/10.1056/nejmoa051962#t=article


Sources: https://louisville.edu/psychology/mervis/lab/research/duplication-syndrome