Review
doi: 10.1177/000992288802700908.
Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review
Affiliations
- PMID: 3046809
- DOI: 10.1177/000992288802700908
Item in Clipboard
Review
Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review
Clin Pediatr (Phila).
1988 Sep.
Abstract
A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, preauricular pit, congenital heart defect, hypotonia, and delayed development is reported. Trisomy 22 mosaicism (46,XX/47,XX,+22) was found in cultured skin fibroblasts but not in blood lymphocytes. Trisomy restricted to skin fibroblasts is uncommon.
Similar articles
-
Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence.Clin Genet. 1992 Jan;41(1):36-8. doi: 10.1111/j.1399-0004.1992.tb03626.x. Clin Genet. 1992. PMID: 1633645 Review.
-
A case of mosaic trisomy 14 due to an isochromosome, i(14q).Jinrui Idengaku Zasshi. 1984 Mar;29(1):69-76. doi: 10.1007/BF01876761. Jinrui Idengaku Zasshi. 1984. PMID: 6748330 No abstract available.
-
Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy.Humangenetik. 1974;25(3):171-7. doi: 10.1007/BF00281424. Humangenetik. 1974. PMID: 4141334 No abstract available.
-
Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl.Acta Paediatr Scand. 1990 Jun-Jul;79(6-7):714-8. doi: 10.1111/j.1651-2227.1990.tb11543.x. Acta Paediatr Scand. 1990. PMID: 2386070
-
Trisomy 9 mosaicism in a girl with multiple malformations.Ann Genet. 1990;33(3):165-8. Ann Genet. 1990. PMID: 2288462 Review.
Cited by
-
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346. Genes (Basel). 2024. PMID: 38540405 Free PMC article.
-
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.Mol Cytogenet. 2018 Aug 17;11:45. doi: 10.1186/s13039-018-0395-z. eCollection 2018. Mol Cytogenet. 2018. PMID: 30140312 Free PMC article.
-
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.BMC Med Genomics. 2023 Nov 13;16(1):286. doi: 10.1186/s12920-023-01709-2. BMC Med Genomics. 2023. PMID: 37957608 Free PMC article.
-
The eye in the CHARGE association.Br J Ophthalmol. 1990 Jul;74(7):421-6. doi: 10.1136/bjo.74.7.421. Br J Ophthalmol. 1990. PMID: 2378857 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
