Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.
We present genotype-phenotype correlations in two patients with distal 10q deletion. A patient with a small terminal deletion presented mild mental retardation and behavioral difficulties with hyperactivity, whereas the patient with a larger deletion, had multiple congenital anomalies and moderate mental retardation. Our observation confirms the previous suggestion that larger deletions of distal chromosome 10q are associated with a more severe clinical presentation, whereas hyperactive behavior may be a specific feature of small terminal deletions of chromosome 10q26.
Petit
P
P
Center for Human Genetics, University Hospital Leuven, Belgium.
Devriendt
K
K
Azou
M
M
Gewillig
M
M
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D019958:Attention Deficit and Disruptive Behavior Disorders / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype