title: Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  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 < or = 2nd centile in 95%, and height and weight ranged between the < 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 "noncompaction cardiomyopathy." 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.
  
  
  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.
authors.affiliation: Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy. abattaglia@inpe.unipi.it
authors.forename: Agatino
authors.initials: A
authors.lastname: Battaglia
authors.forename: H Eugene
authors.initials: HE
authors.lastname: Hoyme
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: Donna
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Charles A
authors.initials: CA
authors.lastname: Williams
authors.forename: Lisa L
authors.initials: LL
authors.lastname: Brailey
authors.forename: Lisa L
authors.initials: LL
authors.lastname: Braley
authors.forename: Sameer M
authors.initials: SM
authors.lastname: Zuberi
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013577:Syndrome