Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

Journal of medical genetics ·Vol. 15 ·No. 2 ·1978-04-00 ·Pages 148-51

Niazi M, Coleman DV, Saldaña-Garcia P

Abstract

A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.

MeSH Terms

Adolescent Chromosomes, Human, 16-18 Chromosomes, Human, 21-22 and Y Dermatoglyphics Female Heart Defects, Congenital/genetics Humans Infant, Newborn Intellectual Disability Karyotyping Lymphocytes/ultrastructure Male Pedigree Phenotype Syndrome Translocation, Genetic Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Niazi M

Coleman D V

Saldaña-Garcia P

References (7)

7 references, click to expand

The E syndrome (trisomy 17-18) resulting from a maternal chromosomal translocation.
Can Med Assoc J. 1962 Sep 8;87:559-61 PMID: 13873308
Chromosome preparations of leukocytes cultured from human peripheral blood.
Exp Cell Res. 1960 Sep;20:613-6 PMID: 13772379
Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.
J Med Genet. 1976 Dec;13(6):520-2 PMID: 65472
A rapid banding technique for human chromosomes.
Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917
Trisomy 18 with an E-G translocation (46,XY,21-t(21q18q)+). Identification of the component chromosomes by several laboratory techniques.
Ann Genet. 1972 Mar;15(1):45-9 PMID: 4537614
The trisomy 18 syndrome with an E/G translocation.
Hum Genet. 1976 Mar 12;31(3):347-9 PMID: 955629
Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.
J Med Genet. 1968 Sep;5(3):227-52 PMID: 5708029

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.15.2.148

Published

1978-04-00

Pages

148-51

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013665

Subset

External Links

PubMed source DOI: 10.1136/jmg.15.2.148 PMC Full Text View journal details

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Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

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