Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 --> 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 --> p16.3::p16.3 --> qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 --> p16.3), with preservation of the WHS critical region.
Paskulin
Giorgio A
GA
Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.
Riegel
Mariluce
M
Cotter
Philip D
PD
Kiss
Andrea
A
Rosa
Rafael F M
RF
Zen
Paulo R G
PR
Mombach
Rômulo
R
Graziadio
Carla
C
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D007446:Chromosome Inversion; D020223:Chromosome Painting / Q000379:methods; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization / Q000379:methods; D004247:DNA / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D020161:Physical Chromosome Mapping; D013577:Syndrome; D054877:Wolf-Hirschhorn Syndrome
D005819:Genetic Markers; D004247:DNA