Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.
We report on 2 girls with mosaic tetrasomy 8p. Patient 1 showed the extra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultured fibroblasts [46,XX/47,XX,+i(8p)]. She presented with growth retardation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial alterations; she had the extra iso 8p chromosome in 94% of cultured peripheral lymphocytes. The patients are compared to the 6 previously reported cases. In our experience, the presently reported patients clinically resemble children with inv dup(8)(p21-p22) and patients with mosaic trisomy 8.
Schrander-Stumpel
C T
CT
Division of Human Genetics, University of Limburg, Maastricht, The Netherlands.
Govaerts
L C
LC
Engelen
J J
JJ
van der Blij-Philipsen
M
M
Borghgraef
M
M
Loots
W J
WJ
Peters
J J
JJ
Rijnvos
W P
WP
Smeets
D F
DF
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000235:genetics