Partial deletion of chromosome 6p: delineation of the syndrome.
Here we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.
Palmer
C G
CG
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
Bader
P
P
Slovak
M L
ML
Comings
D E
DE
Pettenati
M J
MJ
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D012303:Ring Chromosomes; D013577:Syndrome