Partial monosomy for chromosome 22 in a girl with mental retardation.
This report describes a 5-year 6-month-old Chinese girl with partial monosomy for the long arm of chromosome 22. The karyotype was 46,XX/46,XX,del (22) (q13.2). She presented with global developmental delay. Clinical features include seizures, failure-to-thrive, prominent ears, long philtrum and abnormal skin pigmentation on the face and limbs.
Yong
Y P
YP
Department of Neonatology, Singapore General Hospital, Singapore.
Knight
L A
LA
Yong
M H
MH
Lam
S
S
Ho
L Y
LY
D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping