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Ourimbah, Australia – The University of Newcastle

Address: E1. 19 Science Offices Ourimbah 10 Chittaway Road Ourimbah NSW 2258 Australia

Phone: +61 434 94490

Fax: +61 434 94404

Linda Campbell, Phd

Email :Linda.e.campbell@newcastle.edu.au


Queensland Children’s Hospital

Address: 501 Stanley St, South Brisbane QLD 4101, Australia

Dr. Honey Heussler

Leuven, Belgium – Catholic University of Leuven

Anne Swillen, PhD

Address: Department of Human Genetics O & N Herestraat 49- box 602 3000 Laueven
Phone: +32 16 3 41483
Email: ann.swillen@med.kuleuven.be
Website: http://www.kuleuven.be/wieiswie/en/unit/50000622

Koen Devriendt, MD

Address:  Department of Human Genetics O & N Herestraat 49- box 602 3000 Leuven
Phone: +32 16 3 45903
Email: koen.devriendt@med..kuleuven.be
Website: http://www.kuleuven.be/wieiswie/en/unit/50000622

Toronto, ON – The Dalglish Family 22q Clinic 

Director: Anne Bassett, MD, FRCPC

Address: Toronto General Hospital, 8 Norman Urquhart, Room 802, 200 Elizabeth Street, Toronto, Ontario, M5G 2C4 Canada
Phone: (416) 340-5145 Fax: (416) 340-5004
Email: 22q@uhn.ca
Website: https://www.22q.ca/

The Dalglish Family 22q Clinic

The Dalglish Family 22q Clinic for adults with 22q11.2 deletion syndrome (22q) was created in 2012 at the Toronto General Hospital, University Hospital Network (UHN) in Toronto, Canada, through a generous donation by the Dalglish Family and Weston Foundation.

The Clinic is the first to focus on Adults with 22q11.2 deletion syndrome, providing specialized, patient-centered care to adults and their families. The Clinic also provides educational services for trainees and health care providers. In addition, the Clinic is involved in world-class research to improve the quality of life for individuals and families affected by the syndrome.

A typical visit to the centre for the first appointment takes up to 4 to 6 hours. Patients and families usually meet with the social worker, dietitian and doctor, all of whom specialize in 22q. The Patient Flow Coordinator contacts families ahead of time to explain the process.

Follow-up visits are generally shorter than the first visit, but this will depend on the type of appointment and which specialist(s) are being seen.

The Clinic team is dedicated to providing the most comprehensive and seamless care to patients, families and caregivers. The aim is to plan care with different specialties all in one visit (for example: psychiatry, cardiology, and endocrinology).

The following specialty areas are provided and/or coordinated through the Dalglish Family 22q Clinic: genetics, psychiatry, cardiology, endocrinology, neuropsychology, GI/nutrition, social work, and neurology. The Clinic serves patients from age 17 years and up. The Clinic has experience with over 500 adults with 22q.

The Clinic focuses on providing services for Canadian patients with 22q. If you would like to refer an international patient to the Clinic please check the website of the International Patient Program for updates, particularly with respect to hospital policy on patients from the US.

Toronto, ON – 22q Deletion Syndrome Clinic

Address: The Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8
Phone: (416) 813-6390   Fax: (416) 813-5346

Santiago, Chile – Pontifical Catholic University of Chile

Gabriela Repetto, MD
Endocrinology & Genetics: Nancy Unanue, MD

Address: Av Libertador Bernardo O Higgins 340, Santiago, Santiago Metropolitan Region, Chile

Phone Number: +56 2 2354 2000
Email: grepetto@udd.cl
Website: http://medicina.udd.cl/persona/gabriela-repetto/

London, England – Maudsley Hospital (Great Ormond Street Hospital)

Adolescent Psychiatrist: Clodagh Murphy

Address: Bethlem Royal Hospital Monks Orchard Road Beckenham BR3 3BX London, England
Phone Number: 020 3228 4653
Email: clodagh.m.murphy@kcl.ac.uk


Reference Center on Rare Intellectual Disability and Rare Congenital Malformations in PACA (Provence-Alpes-Côte d’Azur) – Marseille, South of France.

Coordinator: Prof. Nicole Philip, MD

Address: Medical Genetics Department, La Timone children hospital (Marseille Public University Hospital) – 264 rue Saint-Pierre 13385 MARSEILLE CEDEX 5 – FRANCE

Phone Number: 33 (0)4 91 38 67 49

Email:  rdv.genetique.medicale@ap-hm.fr 

Visit Website for more information  

Marseille 22q center was created in 2005 and has seen approximately 300 patients with 22q. The age of patients ranges from newborn through late adulthood. The center follows 22q patients throughout their lifetime, and has also developed a network of specialists competent in 22q adults, particularly psychiatrists and endocrinologists.

Specialties served at the clinic include Cardiology, Developmental Pediatrics, Endocrinology, ENT (this includes craniofacial/cleft), Genetics, Immunology, Neuropsychology, Ophthalmology, Orthopedics, Plastic Surgery, Psychiatry, Speech Pathology, Audiology, Dental, General Pediatrics, Hematology, Nephrology, Pulmonary and GI/ Nutrition.

The group has been involved in research for 22q11.2 deletion syndrome since 1993, and is part of the International Consortium on Brain and Behavior in 22q11.2 deletion syndrome. Our clinic is part of Reference Center for Developmental Anomalies, which belongs to the European Reference Network ITHACA.

The Medical Genetics center is located at La Timone Children Hospital (AP-HM, Marseille Public University Hospital) where the full range of pediatric specialties required for 22q babies are available, including pediatric surgery and NICU. The genetic clinic has a central role for 22q patients with coordination of their individualized care plan and periodic evaluations. We offer multidisciplinary clinic with pediatric experts in different fields when needed. AP-HM institute has developed shared medical files (DPI) accessible to all doctors through individualized and secured access in order to improve patients care. First visit in our center is usually scheduled within a month after referral. An appointment can be planned within the week, in case of necessity.

According to the babies’ symptoms, clinics with other specialists (ENT, cardiologist…) will be managed on the same day. During the clinic, doctors give attention to family concerns and perform a complete examination of the baby. Generally, blood sample will be performed (with parent consent) to confirm diagnostic and precise genetic counseling. An appointment with clinical psychologist may be planned on the same day or later.

The clinical genetics unit is involved in the French and the European rare disease reference networks for Neurodevelopmental Disorders, Intellectual Disabilities and Congenital Anomalies: AnDDI-Rares network and ITHACA ERN.

The center is located in the Children’s University Hospital of la Timone in Marseille, in the immediate vicinity of the hospital for adults. We work with a network of referent physicians in all medical and surgical specialties. Recently we developed a new partnership with a reference center for rare psychiatric disorders.

Dublin, Ireland

Children’s Health Ireland CHI  at Crumlin Hospital

Address: D12 N512, Ireland

Phone Number: +353 (0) 1 409 6100

Visit Website

Clinical Leader: Dr Suzanne Kelleher

Clinic has been running since 2017 and meets one afternoon a month.  

Main Contact: Anne Lawlor

Email: twenty.two.q@gmail.com

Beaumont Hospital

Professor of Psychiatry: Kieran Murphy, MD

Sees adults with 22q (Not a 22q Clinic)

Address: Beaumont Road, Dublin Ireland
Phone: (01)-809-3740
Email: KMurphy@rcsi.ie
Fax: (01)-837-6982
Website: http://www.beaumont.ie


The Behavioral Neurogenetic Center

Hospital /University Affiliate: The Child Psychiatry Unit, Edmond and Lily Sapfra Children’s Hospital, Sheba Medical Center, Tel Hashomer

Name: Doron Gothelf, MD – Psychiatrist

Email:  Lea.Keren@sheba.health.gov.il

Phone Number: +972-3-5302088

Visit Website: https://yeladim.sheba.co.il/

The center was created in 2001 and has served over 350 individuals, seeing patients from newborn through adulthood. The clinic provides comprehensive treatment for the diverse needs of individuals with 22 11.2 syndrome. The center’s services include evaluation and treatment programs for their patients. The Behavioral Neurogenetic Center is one of the world’s leading research and treatment centers for 22q syndrome, and collaborates with several centers in the United States and Europe.

The department is involved with other specialists in the hospital including: genetics endocrine, and nephrology; therefore they are able to offer a service of “Full Clinic Day” that includes several meetings with various experts, according to the needs of the patient.

A patient’s first visit will consist of an initial one-hour intake meeting with Prof. Gothelf or Dr. Serur. The focus of the meeting is to assess the patient’s needs, and create a treatment and follow-up protocol. At the end of the meeting, recommendations are given, including relevant referrals with the top experts at the Sheba Medical Center.

The clinic supports an Israeli organization of families with individuals with 22q11.2 syndrome. The clinic holds various activities, lectures, and annual social events for the families.

Rome, Italy – Pediatric Hospital Bambino Gesu

Maria Cristina Digilio, MD

Address: Piazza S. Onofrio, 4-00165 Rome
Phone Number: +39-06-68592227
Email: ten.gbpo@oiligid
Website: http://www.ospedalebambinogesu.it/home

Cardiologist: Bruno Marino, MD (University La Sapienza)
Address: Viale Regina Elena, 324 Rome, 00161 Italy
Email: bruno.marino@uniroma1.it

Tokyo, Japan – Ochanomizu University

Pediatric Clinical Geneticist: Hiroshi Kawame, MD

Address: 2-1-1 Ohtsuka, bunkyo-ku Tokyo 112-8610 Japan
Phone: 81-3-5978-5587
Email: kawame.hiroshi@ocha.ac.jp

Tokyo, Japan – The University of Tokyo Hospital

Psychiatrist: Kiyoto Kasai, MD

Address: 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan
Phone: 81-3-3815-5411
Email: 22q.research@gmail.com

Maastricht, Netherlands – Maastricht University

Psychiatrist: Therese van Amelsvoort, MD

Address: Minderbroedersberg 4-6, 6211 LK Maastricht, Netherlands
Phone: +31-43-3883584
Email: t.vanamelsvoort@maastrichtuniversity.nl
Website: http://mhens.unimaas.nl

Utrecht, Nethrelands – University Medical Centre

Child Psychiatrist: Jacob Vorstman, MD, PhD

Address: UMC Utrecht Brain Center Rudolf Magnus Universiteitsweg, 100 3584 CG Utrecht
Phone: +31 88 75 8180
Email: j.a.s.vorstman@umcutrecht.nl
Website:  http://research.umcutrechthersencentrum.nl
Dino Colo, MD, PhD

Warsaw, Poland – Instytut Matki i Dziecka, Department of Medical Genetics

Beata Nowakowska, PhD

Address: Kasprzaka 17A,Warsaw, Poland
Phone Number: +48 22 3277140
Email: Beata.Nowakowska@med.kuleuven.be

Madrid, Spain – University Hospital La Paz

Sixto Garcia-Minaur, MD

Address: Pº de la Castellana, 261 28046 – Madrid
Phone: 91 727 70 00
Email: sixto.garciamin@gmail.com
Website: http://www.madrid.org/cs/Satellite?language=es&pagename=HospitalLaPaz/Page/HPAZ_home

Mallorca, Spain – University Hospital Son Espases

Damian Heine Suner, PhDJaume Morey Canyelles
Jaume Morey Canyelles

Address: Ctra. de Valldemossa 79, Palma City, 07010
Phone: 871 205 000
Email: damian.heine@ssib.es
Website: http://www.hospitalsonespases.es/index.php?option=com_k2&view=item&id=763:gen%C3%B3mica-de-la-salud&Itemid=804&lang=es

Barcelona, Spain – Hospital Universitario Vall d´Hebron

Dra. Cueto González, Ana María and Dra. Vendrell, Teresa

Address: Passeig de la Vall d´Hebrón 119-129, Barcelona 08035
Phone: 934 89 31 00
Email: amcueto@vhebron.net
Website: http://www.vhebron.net/es/

Geneva, Switzerland – University of Geneva

Stephan Eliez, MD

Address: University Medical Center Dept. of Neuroscience, room 7008 1 rue Michel-Servet, CH-1211 Geneva 4
Phone: 0041 22 379 5381
Email: Stephan.eliez@unige.ch
Fax: 0041 22 379 5402
Website: http://neurocenter.unige.ch/groups/eliez.php

Gothenburg, Sweden – Queen Silvia Children’s Hospital

General Pediatrics & Immunology: Solveig Oskarsdottir, MD

Address: Department of Pediatric Immunology The Queen Silvia Children’s Hospital- Sahlgrenska University Hospitaal Rondgatan 10 SE 41685 Goteborg Sweden
Phone: 46 31 343 5220
Email: janette.nystromy@vgregion.se

Cardiff, Wales – Cardiff University

Neurologist: Michael Owen, MD

Address: Cardiff University School of Medicine Hadyn Ellis Building Maindy Road Cathays Cardiff CF24 4HQ
Phone: +44 029 20 688 320, ext. 88320
Email: OwenMJ@cf.ac.uk
Website: http://medicine.cf.ac.uk/person/prof-michael-john-owen/

Marianne van den Bree, PhD
Email: VANDENBREEMB@cardiff.ac.uk

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At the International 22q11.2 Foundation we help families that need important resources and information to meet the needs of loved ones with 22q.