Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

Human genetics ·Vol. 51 ·No. 2 ·1979-10-01 ·Pages 127-37

Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C

Abstract

Instability of the centromeric region of chromosome 1 and multibranched configurations formed by different numbers and combinations of arms of chromosomes 1, 9, and 16 were found in cultured lymphocytes of a 12-year-old male with combined IgA and IgE deficiency. No chromosome abnormalities were found in fibroblast cultures from the patient or in blood cultures from his parents. A possible effect on the frequency of the abnormalities of the almost continuous antibiotic treatment received by the patient was found both in vivo and in vitro, but no abnormalities were found in blood cultures from control subjects who received similar treatment. Interphase association of chromosomes 1, 9, and 16 and a high frequency of interchanges among the centromeric regions of these chromosomes due to the presence of a fragile site is assumed to be the cause of the abnormalities.

MeSH Terms

Child Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, 1-3/ultrastructure Chromosomes, Human, 16-18/ultrastructure Chromosomes, Human, 6-12 and X/ultrastructure Humans Immunoglobulin A Immunoglobulin E Immunologic Deficiency Syndromes/genetics Karyotyping Male

Chemicals

Immunoglobulin A Immunoglobulin E

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Tiepolo L

Maraschio P

Gimelli G

Cuoco C

Gargani G F

Romano C

References (11)

11 references, click to expand

Recurrent sinopulmonary infections, mental retardation, and combined IgA and IgE deficiency.
J Pediatr. 1970 Nov;77(5):802-4 PMID: 4100838
[Selective endoreduplication of the long arm of the 2 chromosome in a woman and her daughter].
C R Acad Sci Hebd Seances Acad Sci D. 1968 Jan 3;266(1):24-6 PMID: 4967624
Selective endoreduplication or branched chromosome?
Exp Cell Res. 1977 Feb;104(2):423-6 PMID: 65287
Location of satellite and homogeneous DNA sequences on human chromosomes.
Nat New Biol. 1971 Oct 27;233(43):268-71 PMID: 4107945
Inherited constriction fragility of chromosome 2.
Ann Genet. 1973 Mar;16(1):29-34 PMID: 4352902
[Constitutional stereotyped gap in human chromosomes (author's transl)].
J Genet Hum. 1978 Mar;26(1):55-67 PMID: 670937
The problem of partial endoreduplication.
Hum Genet. 1978 Nov 24;45(1):51-62 PMID: 730181
The location of four human satellite DNAs on human chromosomes.
Exp Cell Res. 1975 Apr;92(1):148-58 PMID: 48464
Centric fission of chromosome no. 4 in the mother of two patients with trisomy 4p.
Hum Genet. 1976 Jan 28;31(1):121-5 PMID: 1248819
Distribution of mitomycin C induced breaks on human chromosomes.
Hereditas. 1973;74(2):273-81 PMID: 4755816
A model for the production of chromosome damage by mitomycin C.
Chromosoma. 1972;38(1):95-104 PMID: 5052912

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00287166

Published

1979-10-01

Pages

127-37

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00287166 View journal details

Analysis Services

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

Contact

WeChat Official Account