The Wolf-Hirschhorn syndrome in adulthood: Evaluation of a 24-year-old man with a rec(4) chromosome

Journal Article · Wed Oct 16 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<124::AID-AJMG8>3.0.CO;2-S· OSTI ID:508255

Ogle, R; Sillence, D O; Merrick, A ^[1]

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1. Children`s Hospital, Summer Hill, NSW (Australia); and others

We describe 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 vocalized 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 hybridization with probe D4S96 confirmed the deletion. This is the second case of Wolf-Hirschhorn syndrome resulting from a large pericentric inversion of chromosome 4. 14 refs., 3 figs.

• OSTI ID: 508255
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 65; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CARDIOVASCULAR DISEASES
CHROMOSOMAL ABERRATIONS
EPILEPSY
FLUORESCENCE
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
IN-SITU HYBRIDIZATION
KARYOTYPE
MENTAL DISORDERS
PATIENTS
PHENOTYPE
PROBES