{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:52:31Z","timestamp":1792889551674,"version":"4.5.0"},"reference-count":29,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,2,1]]},"abstract":"<jats:p>OBJECTIVES. Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome (1 in 5000 newborns). 1p36.3 deletions account for 0.5% to 1.2% of idiopathic mental retardation; thus, knowledge about the condition is important for pediatricians caring for such patients. Despite 100 reported cases, little is known about its natural history. Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting.<\/jats:p>\n               <jats:p>PATIENTS AND METHODS. We evaluated 60 patients with the 1p36 deletion syndrome (41 female, 19 male). All underwent physical and neurologic assessments, and most received a psychological evaluation. Standard cytogenetics, fluorescence in situ hybridization of the subtelomeric regions, or array comparative genomic hybridization were used for diagnosis.<\/jats:p>\n               <jats:p>RESULTS. Fourteen cases were detected by standard cytogenetics, and 46 were detected by fluorescence in situ hybridization of the subtelomeric regions or array comparative genomic hybridization. Occipitofrontal circumference was at \u22642nd centile in 95%, and height and weight ranged between the &amp;lt;3rd and 90th centiles. All patients had straight eyebrows, deep-set eyes, midface hypoplasia, broad nasal root\/bridge, long philtrum, and pointed chin. Other features included microbrachycephaly (65%), epicanthus (50%), large, late-closing anterior fontanel (77%), and posteriorly rotated, low-set, abnormal ears (40%). Brachy\/camptodactyly and short feet were prominent. Seventy-one percent exhibited heart defects, including 23% with a \u201cnoncompaction cardiomyopathy.\u201d Fifty-two percent had eye\/visual abnormalities, and 64% had visual inattentiveness. Twenty-eight percent had sensorineural deafness, 41% had skeletal anomalies, 25% had abnormal genitalia, and 22% had renal abnormalities. Eighty-eight percent had central nervous system anomalies, and 44% had seizures. All patients demonstrated developmental delay with poor\/absent speech; 95% had hypotonia. Twenty-six percent were able to walk alone, and 47% had a behavior disorder. Constant developmental progress was observed in all cases over time. Noncompaction cardiomyopathy and most seizures were controlled by pharmacotherapy.<\/jats:p>\n               <jats:p>CONCLUSIONS. These 60 patients with deletion 1p36 represent the largest clinical series to date and provide new information on several aspects of this disorder, which is characterized by neurodevelopmental disability and a recognizable pattern of malformation.<\/jats:p>","DOI":"10.1542\/peds.2007-0929","type":"journal-article","created":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T18:40:00Z","timestamp":1201891200000},"page":"404-410","source":"Crossref","is-referenced-by-count":234,"title":["Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation"],"prefix":"10.1542","volume":"121","author":[{"given":"Agatino","family":"Battaglia","sequence":"first","affiliation":[{"name":"Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy"},{"name":"Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Eugene","family":"Hoyme","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Clinical Research Institute CSS-Mendel, University La Sapienza, Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louanne","family":"Hudgins","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"McDonald-McGinn","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi-Buisson","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Hopital Necker Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Romano","sequence":"additional","affiliation":[{"name":"Clinical Research Institute Oasi Maria SS, Troina, Enna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles A.","family":"Williams","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa L.","family":"Brailey","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameer M.","family":"Zuberi","sequence":"additional","affiliation":[{"name":"Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2008,2,1]]},"reference":[{"key":"2021120820161335900_R1","doi-asserted-by":"crossref","unstructured":"Hain D, Leversha M, Campbell N, Daniel A, Barr PA, Rogers JG. 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