The partial monosomy 10q syndrome: report on two patients and review of the developmental data.
Two patients, a boy and a girl, with growth delay, mental retardation and mild dysmorphism due to a de novo terminal 10q deletion are described. A recognizable facial appearance with a prominent nose and dysplastic ears was present. Specific attention is given to the developmental and behavioural data of the children. A review is made of the psychologic data of the 18 earlier reported surviving cases.
Schrander-Stumpel
C
C
Department of Clinical Genetics, Academic Hospital, University of Limburg, Maastricht, The Netherlands.
Fryns
J P
JP
Hamers
G
G
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009006:Monosomy; D009483:Neuropsychological Tests