Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.
The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34).
Moog
Ute
U
Department of Clinical Genetics, University Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands. ute.moog@gen.unimaas.nl
Engelen
John J M
JJ
van Schrojenstein Lantman-de Valk
Henny M J
HM
Driessen
Sandra D
SD
Fryns
Jean-Pierre
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002894:Chromosomes, Human, Pair 4; D002897:Chromosomes, Human, Pair 7; D003103:Coloboma / Q000235:genetics; D017353:Gene Deletion; D006257:Head / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D035781:Siblings; D014178:Translocation, Genetic