The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.
We described a profoundly intellectually disabled 24-year-old man with Wolf-Hirschhorn syndrome, left hemiplegia, epilepsy, atrophy of the right cerebral hemisphere, and dilatation of the right ventricle. The patient had a small ventricular septal defect, was wheelchair bound, and totally dependent. He had no speech, but vocalised to show his feelings. In this patient, the del(4)(p15) was subtle and arose due to the inheritance of a recombinant chromosome (4) from a maternal pericentric inversion-46,XX,inv(4) (p15.32q35). Fluorescence in situ hybridisation with probe D4S96 confirmed the deletion. This is the second case of Wolf-Hirschhorn syndrome resulting from a large pericentric inversion of chromosome 4.
Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.
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R
Ogle
D O
DO
Sillence
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A
Merrick
J
J
Ell
B
B
Lo
L
L
Robson
A
A
Smith
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities; D005260:Female; D006429:Hemiplegia / Q000150:complications / Q000235:genetics; D006801:Humans; D006972:Hypertelorism; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D012640:Seizures / Q000150:complications / Q000235:genetics; D013577:Syndrome; D014910:Wheelchairs