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PMID: 489010 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Cytogenetic and clinical studies in five cases of inv dup(15).

Human genetics ·Vol. 50 ·No. 3 ·1979-09-00 ·Pages 259-70

Wisniewski L, Hassold T, Heffelfinger J, Higgins JV

Abstract

Inv dup(15) is a clinically significant bisatellited derivative of chromosome 15. Five unrelated patients with this abnormality are described and compared with ten confirmed and nine suspected cases in the literature. Mental and developmental retardation, hypotonia, behavioral disturbances, seizures, abnormal dermatoglyphics, and mild somatic anomalies were the most consistent findings. The extra chromosomes in our patients were identified with the aid of various techniques, including distamycin A/DAPI banding. A comparison of satellite polymorphisms suggested that the rearrangements frequently arose by meiotic nonsister chromatid exchange and second-division nondisjunction. A maternal origin was indicated in two cases, and parental ages were distinctly elevated.

MeSH Terms
Abnormalities, Multiple/genetics Adolescent Adult Child Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, 13-15 Female Humans Infant Infant, Newborn Intellectual Disability/genetics Karyotyping Male Middle Aged Pedigree
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Wisniewski L
Hassold T
Heffelfinger J
Higgins J V
References (25)
25 references, click to expand
  1. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.
    Am J Hum Genet. 1977 Jan;29(1):94-7 PMID: 835578
  2. Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.
    Am J Ment Defic. 1973 Mar;77(5):571-8 PMID: 4703990
  3. A case of partial trisomy 15.
    J Med Genet. 1974 Dec;11(4):400-2 PMID: 4443991
  4. Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations.
    Clin Genet. 1978 Oct;14(4):229-34 PMID: 699362
  5. Partial trisomy of chromosome 15.
    Am J Ment Defic. 1977 May;81(6):606-9 PMID: 868931
  6. Partial D 15 trisomy. A case and general review.
    Hum Hered. 1975;25(6):442-52 PMID: 1225818
  7. Distinctive fluorescence of quinacrine-labelled human G group chromosomes.
    Nat New Biol. 1971 Jun 30;231(26):276-7 PMID: 4253605
  8. Banding identification of partial trisomy 15 and of 8/21 translocation.
    J Ment Defic Res. 1974 Jun;18(2):139-44 PMID: 4141377
  9. C bands in human metaphase chromosomes treated by barium hydroxide.
    Ann Genet. 1974 Jun;17(2):135-6 PMID: 4139928
  10. Chiasma distribution at diakinesis in the normal human male.
    Hereditas. 1974;76(1):55-78 PMID: 4136005
  11. Induction of distinctive chromosomal bands in selected human subjects with D, G, and Y chromosome anomalies.
    Hum Hered. 1973 Apr;23(4):313-30 PMID: 4130026
  12. An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.
    Ann Genet. 1975 Jun;18(2):99-103 PMID: 1081372
  13. Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.
    Exp Cell Res. 1978 Feb;111(2):327-32 PMID: 75107
  14. Familial partial trisomy 15.
    Ann Genet. 1977 Sep;20(3):159-65 PMID: 304698
  15. Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents.
    Exp Cell Res. 1970 Oct;62(2):490-2 PMID: 5495462
  16. Partial trisomy 15.
    Lancet. 1972 Dec 23;2(7791):1365-6 PMID: 4118227
  17. The origin and behavior of two isodicentric bisatellited chromosomes.
    Am J Hum Genet. 1977 May;29(3):294-300 PMID: 868876
  18. [Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].
    Ann Genet. 1973 Dec;16(4):271-5 PMID: 4544092
  19. Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15.
    Hum Genet. 1977 Apr 7;36(1):1-12 PMID: 323137
  20. Maternal and paternal origin of extra chromosome in trisomy 21.
    Hum Genet. 1976 Apr 15;32(1):17-21 PMID: 131105
  21. A bisatellited marker chromosome in a mentally retarded girl with infantile autism.
    Hereditas. 1976;82(1):37-42 PMID: 1262237
  22. Partial trisomy of chromosome 15.
    Lancet. 1973 Jun 2;1(7814):1250 PMID: 4122596
  23. UNUSUAL DERMATOGLYPHIC PATTERNS ASSOCIATED WITH CHROMOSOMAL ABNORMALITIES.
    J Ment Defic Res. 1963 Dec;7:90-101 PMID: 14086188
  24. Partial trisomy 15q1.
    Hum Genet. 1976 Jul 7;33(1):77-83 PMID: 939561
  25. Partial trisomy of chromosome 15.
    Lancet. 1972 May 13;1(7759):1073 PMID: 4112216
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00399391
Published
1979-09-00
Pages
259-70
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00399391 View journal details
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