De novo interstitial tandem duplication of chromosome 4(q21-q28).
We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q.
Navarro
E G
EG
Unidad Técnica de Genética Humana, Centro de Bioquímica y Genética Clínica, Murcia, Spain.
Romero
M C
MC
Expósito
I L
IL
Velasco
C M
CM
Llamas
J G
JG
Ramón
F J
FJ
Jimenez
R D
RD
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D005810:Multigene Family; D011596:Psychomotor Disorders / Q000150:complications*