Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-Tooth type Ia gene has recently been localised to the 17p11.2 sub-band.
Moncla
A
A
INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.
Livet
M O
MO
Auger
M
M
Mattei
J F
JF
Mattei
M G
MG
Giraud
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002653:Child Behavior Disorders / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D013577:Syndrome