TY - JOUR
T1 - Further delineation of deletion 1p36 syndrome in 60 patients
T2 - A recognizable phenotype and common cause of developmental delay and mental retardation
AU - Battaglia, Agatino
AU - Hoyme, H. Eugene
AU - Dallapiccola, Bruno
AU - Zackai, Elaine
AU - Hudgins, Louanne
AU - McDonald-McGinn, Donna
AU - Bahi-Buisson, Nadia
AU - Romano, Corrado
AU - Williams, Charles A.
AU - Braley, Lisa L.
AU - Zuberi, Sameer M.
AU - Carey, John C.
PY - 2008/2
Y1 - 2008/2
N2 - 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. 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. 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 ≤2nd centile in 95%, and height and weight ranged between the
AB - 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. 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. 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 ≤2nd centile in 95%, and height and weight ranged between the
KW - 1p36 deletion syndrome
KW - Monosomy 1p36
KW - Natural history
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U2 - 10.1542/peds.2007-0929
DO - 10.1542/peds.2007-0929
M3 - Article
C2 - 18245432
AN - SCOPUS:38849085346
VL - 121
SP - 404
EP - 410
JO - Pediatrics
JF - Pediatrics
SN - 0031-4005
IS - 2
ER -