A case of (13q;18q) translocation with proximal 13q monosomy.

Human genetics ·Vol. 38 ·No. 3 ·1977-10-14 ·Pages 337-41

Suzuki Y, Ono K, Oka S, Matsubara T, Arima M, Nakagome Y

Abstract

A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.

MeSH Terms

Abnormalities, Multiple/genetics Child, Preschool Chromosomes, Human, 13-15 Chromosomes, Human, 16-18 Female Humans Translocation, Genetic

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Suzuki Y

Ono K

Oka S

Matsubara T

Arima M

Nakagome Y

References (4)

4 references, click to expand

De novo (11;13) translocation.
Humangenetik. 1975 Jun 19;28(2):87-91 PMID: 1150274
Partial monosomy 13 as the result of a balanced translocation 3/13 pat.
Humangenetik. 1975 Jun 19;28(2):93-6 PMID: 1150275
Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.
Clin Genet. 1976 Jun;9(6):593-602 PMID: 1277571
Clinical and chromosomal studies of the 18q- syndrome.
J Pediatr. 1971 Jan;78(1):44-52 PMID: 5539084

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00402161

Published

1977-10-14

Pages

337-41

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00402161 View journal details

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A case of (13q;18q) translocation with proximal 13q monosomy.

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