Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.
We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long arm of chromosome 3 are extremely rare, having been reported in five cases, only two of which had terminal 3q deletions.
Brueton
L A
LA
Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.
Barber
J C
JC
Huson
S M
SM
Winter
R M
RM
D002648:Child; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002658:Developmental Disabilities / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D012886:Skull / Q000002:abnormalities