[The (18)(q 22----qter) deletion in patients with complete clinical features of the De Grouchy syndrome].
A case of a 4-year old boy with de Grouchy syndrome was reported. The patient showed generalised muscular hypotonia, marked mental retardation (RQ = 30), developmental milestones retarded, craniofacial dysmorphic features, congenital heart disease, abnormalities of the external genitalia and skeletal deformities. The karyotype analysis revealed a partial deletion of the distal bands of chromosome 18:48 48 xy del (18) (q 22----qter). Qualitative and quantitative characteristics analysis of digital and palmar dermatoglyphics supported the diagnosis.
Vranjesević
D
D
Klinika za neurologiju i psihihatriju za decu i omladinu, Medicinskog fakulteta Univerziteta u Beogradu.
Dukić
S
S
Jović
N
N
Branković
S
S
Kosanović
M
M
D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009123:Muscle Hypotonia; D013577:Syndrome
Delecija--(18) (q 22----qter) u pacijenta sa kompletnom klinickom slikom sindroma De Grouchy.