Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3).
We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated.
Jeziorowska
A
A
Department of Genetics, Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314.
Ciesla
W
W
Houck
G E
GE
Yao
X L
XL
Harris
M S
MS
Truszczak
B
B
Skorski
M
M
Jakubowski
L
L
Jenkins
E C
EC
Kaluzewski
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D015139:Blotting, Southern; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000032:analysis; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities
D004247:DNA