Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
- 1 September 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (9) , 746-748
- https://doi.org/10.1136/jmg.32.9.746
Abstract
We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic differences alone.Keywords
This publication has 15 references indexed in Scilit:
- Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2American Journal of Medical Genetics, 1994
- Hypoparathyroidism as the major manifestation in two patients with 22q11 deletionsAmerican Journal of Medical Genetics, 1994
- "CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?Journal of Medical Genetics, 1994
- DiGeorge syndrome: part of CATCH 22.Journal of Medical Genetics, 1993
- Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.Journal of Medical Genetics, 1993
- Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11Human Molecular Genetics, 1993
- Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndromeAmerican Journal of Medical Genetics, 1992
- Deletions within chromosome 22q11 in familial congenital heart diseaseThe Lancet, 1992
- Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locusThe Lancet, 1992
- Characterization of a panel of highly variable minisatellites cloned from human DNAAnnals of Human Genetics, 1987