deletion syndrome

deletion syndrome

Clinical genetics Any of number of hereditary conditions caused by a major loss of chromosome segments; all are rare, often have microcephaly, and an IQ < 50
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Poster title: 'Common Behavioral Features of Autism, Fragile X Syndrome, and 22q11.2 Deletion Syndrome'
Rio has a rare chromosome disorder, 1q44 deletion syndrome, that affects his speech and motor skills, while making even simple movements such as walking a challenge.
This article illustrates assessment findings and management of three genetic disorders associated with CHD: CHARGE syndrome, 22q11.2 deletion syndrome, and VACTERL association.
Top-line results will be reported in the third quarter of 2019; Zynerba has expanded its pipeline with the addition of two new childhood neuropsychiatric clinical targets for ZYN002: Autism Spectrum Disorder and 22q11.2 Deletion Syndrome, a rare genetic syndrome leading to significant impairments, including neuropsychiatric disorders.
A chromosomal analysis was positive for chromosome 22 deletion syndrome.
* A novel case of biliary atresia in a premature neonate with 1p36 deletion syndrome presented by Vonita Chawla MD, Alaa Eldemerdash MD, Miran Rhee-Anagnost MD, Rabea Alhosh MD, Rebecca Scherr MD, Dahna Reyes MD, Kanayo Ezealonue MD, and Francis Banfro MD
These patients exhibit various phenotypes and generally are karyotyped because of a clinical suspicion of DiGeorge syndrome, DGS (OMIM 188400), velocardiofacial syndrome, VCFS (OMIM 192430), 22q11.2 deletion syndrome (22q11.2DS) or conotruncal anomaly (OMIM 217095).
They address the definitions of intellectual and developmental disabilities, historical aspects and changing perspectives, trends and issues, international human rights and intellectual disability, and making services more effective through research and evaluation; human development; etiology and specific disabilities, including Down syndrome, fragile X syndrome, 22q11.2 deletion syndrome, fetal alcohol spectrum disorder, cerebral palsy, and epilepsy; support and interventions; intellectual and developmental disabilities through the lifespan, including sexuality, parenting, gender issues, and aging; and health aspects, including decision making and consent, mental health needs, and nutritional considerations.
Chromosome 9p deletion syndrome (OMIM#158170) is a well-known disorder, a structural monosomy occurring with loss of a part of 9p of varying size.
Palatal anomalies were found in approximately 70% of patients with 22q11.2 Deletion syndrome so the FISH of 22q11.2 locus was performed for our patient, a normal signal pattern with no deletion was detected.
And that was one of the tell-tale signs of his condition, 22q11.2 deletion syndrome.