A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).
A child with monosomy for the distal part of the short arm of chromosome 3 (3p25-->pter) and trisomy for the terminal portion of the long arm of chromosome 17 (17q23-->qter) is presented. This unbalanced karyotype was derived from a balanced reciprocal 3p/17q translocation in the phenotypically normal mother. Main clinical features in the proband included growth and mental retardation, hypotonia, hirsutism, micro/brachycephaly, triangular face, synophris, broad and full nose, long philtrum, narrow upper lip, low set, posteriorly turned ears, anteriorly placed anus and congenital heart defect (Tetralogy of Fallot). Most of these clinical manifestations have been constantly reported in previous cases with terminal 3p deletion.
Lukusa
T
T
Centre for Human Genetics, University Hospital of Leuven, Belgium.
Devriendt
K
K
Fryns
J P
JP
D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007621:Karyotyping; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy