Large duplication 4q25-q34 with mild clinical effect.
We report on a 5-year-old Tunisian boy with particular dysmorphic features and mild mental retardation limited in delayed and poor language acquisition. Cytogenetic analysis using RHG banding and FISH using whole chromosome four painting probe showed a partial duplication in the long arm of chromosome four. Locus specific probes and CGH confirmed the presence of a ''pure'' partial trisomy 4q due to de novo direct tandem dup(4)(q25q34). Comparative analysis of our case with those published previously, suggests that region 4q31-q33 may be involved in the development of the 4q characteristic dysmorphic features and the distal band 4q35 may be involved in the development of microcephaly and severe mental and growth retardation.
Elghezal
Hatem
H
Service de Cytogénétique et de Biologie de la Reproduction, Hôpital Farhat Hached, Sousse, Tunisia. hatem_elghezal@yahoo.fr <hatem_elghezal@yahoo.fr>
Sendi
Halima Sennana
HS
Monastiri
Kamel
K
Lapierre
Jean Michel
JM
Romdhane
Samira Ibala
SI
Mougou
Soumaya
S
Saad
Ali
A
D002675:Child, Preschool; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly; D014314:Trisomy / Q000235:genetics*; D014416:Tunisia