Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21----pter). She showed minimal dysmorphic features, agenesis of the corpus callosum and moderate developmental delay. There is no previous report of mosaicism for partial monosomy and partial trisomy 8p. The clinical findings in the presently described patient are less severe than those reported in cases with only monosomy or trisomy of the distal part of chromosome 8.
van Balkom
I D
ID
VU Academisch Ziekenhuis, Amsterdam, The Netherlands.
Hagendoorn
J
J
De Pater
J M
JM
Hennekam
R C
RC
D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009006:Monosomy; D009030:Mosaicism; D014314:Trisomy