Case Reports
doi: 10.1007/BF00273205.
Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother
- PMID: 437787
- DOI: 10.1007/BF00273205
Item in Clipboard
Case Reports
Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother
Hum Genet.
.
Abstract
A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the chromosome(s) 22 in this woman.
Similar articles
-
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).Hum Genet. 1979 Jan 25;46(2):237-41. doi: 10.1007/BF00291927. Hum Genet. 1979. PMID: 422207
-
Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.Am J Med Genet A. 2011 May;155A(5):1129-35. doi: 10.1002/ajmg.a.33868. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484996
-
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.Genes (Basel). 2020 Dec 9;11(12):1473. doi: 10.3390/genes11121473. Genes (Basel). 2020. PMID: 33316910 Free PMC article.
-
Transmission of ring 14 chromosome from mother to two sons.Am J Med Genet. 1990 Aug;36(4):381-5. doi: 10.1002/ajmg.1320360402. Am J Med Genet. 1990. PMID: 2202211 Review.
-
Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.Am J Med Genet. 1994 Nov 1;53(2):108-40. doi: 10.1002/ajmg.1320530204. Am J Med Genet. 1994. PMID: 7856637 Review.
Cited by
-
Inherited ring chromosomes: an analysis of published cases.Hum Genet. 1991 Jul;87(3):320-4. doi: 10.1007/BF00200912. Hum Genet. 1991. PMID: 1864607 Review.
-
Inheritance of a ring 14 chromosome.J Med Genet. 1981 Jun;18(3):209-13. doi: 10.1136/jmg.18.3.209. J Med Genet. 1981. PMID: 7241544 Free PMC article.
-
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.Mol Cytogenet. 2016 Jan 28;9:8. doi: 10.1186/s13039-015-0211-y. eCollection 2016. Mol Cytogenet. 2016. PMID: 26823686 Free PMC article. Review.
-
Molecular mechanism in the formation of a human ring chromosome 21.Proc Natl Acad Sci U S A. 1989 Mar;86(6):1914-8. doi: 10.1073/pnas.86.6.1914. Proc Natl Acad Sci U S A. 1989. PMID: 2648387 Free PMC article.
-
Ring chromosome 22: a review of the literature and first report from India.Balkan J Med Genet. 2012 Jun;15(1):55-9. doi: 10.2478/v10034-012-0009-8. Balkan J Med Genet. 2012. PMID: 24052724 Free PMC article.