Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence.
A male patient is reported with terminal 10q26 deletion and clinical findings suggesting Prader-Willi syndrome during the infancy. These findings included decreased fetal movements, neonatal hypotonia, need for tube feeding, characteristic facial dysmorphism with dolichocephaly, narrow bifrontal diameter, almond-shaped eyes and epicanthus, hypogenitalism and developmental retardation. However, during the further evolution there was neither hyperphagia nor obesity and chromosomal and molecular investigations failed to confirm the diagnosis of Prader-Willi syndrome. Special behavioural abnormalities became evident with notably hyperactivity, hyperkinesis and destructive tendency. Finally, at the age of 17 years high resolution chromosome studies revealed a terminal 10q26.3 deletion. A review of the literature is made on previously reported patients with either a Prader-Willi-like syndrome or a terminal 10q deletion with behavioural problems.
Lukusa
T
T
Center for Human Genetics, Catholic University of Leuven, Belgium.
Fryns
J P
JP
D000293:Adolescent; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy