Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
- 1 April 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (4) , 306-308
- https://doi.org/10.1136/jmg.32.4.306
Abstract
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.Keywords
This publication has 16 references indexed in Scilit:
- Trisomy 22 confirmed by fluorescent in situ hybridizationAmerican Journal of Medical Genetics, 1993
- THE 22Q DISTAL TRISOMY SYNDROME IN A RECOMBINANT CHILD1988
- A cytogenetic study directly from chorionic villi of 140 spontaneous abortionsHuman Genetics, 1987
- Trisomy 22 in a newborn with multiple malformationsHuman Genetics, 1987
- FULL TRISOMY-22 IN A NEWBORN-INFANT1987
- Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22(p13q12.2)Human Genetics, 1983
- The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotypeHuman Genetics, 1981
- Incomplete trisomy 22Human Genetics, 1981
- Anatomic and chromosomal anomalies in 639 spontaneous abortusesHuman Genetics, 1980
- An improved technique for selective silver staining of nucleolar organizer regions in human chromosomesHuman Genetics, 1976