Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.

[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 4 p . 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 4 p 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 4 p 13 --> 4 p 16 .3 . Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4 p : 46 ,XX ,der (4 )(:p 13 --> p 16 .3 ::p 16 .3 --> qter ). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4 (p 14 --> p 16 .3 ), with preservation of the WHS critical region .

Diseases
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Diseases presenting "multiple minor anomalies of face and limbs" symptom

wolf-hirschhorn syndrome

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