Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplications of the long arm of chromosome 22 are discussed.
Prasher
V P
VP
Department of Psychiatry, University of Birmingham, Queen Elizabeth Psychiatric Hospital, Edgbaston, UK.
Roberts
E
E
Norman
A
A
Butler
A C
AC
Krishnan
V H
VH
McMullan
D J
DJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002478:Cells, Cultured; D002871:Chromosome Banding / Q000379:methods; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008214:Lymphocytes / Q000187:drug effects / Q000502:physiology; D008297:Male; D010835:Phytohemagglutinins / Q000494:pharmacology; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics*
D010835:Phytohemagglutinins