A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).

Journal of medical genetics ·Vol. 12 ·No. 3 ·1975-09-00 ·Pages 310-4

Mason MK, Spencer DA, Rutter A

Abstract

A case of partial trisomy 9 is described, conforming that this will produce a recognizable syndrome of a characteristic facies with deep-set eyes and an unusual shape of the nose. Failure of secondary sexual characteristics to develop appears to be a feature in adults. In this case the mother had a balanced translocation between chromosomes 1 and 9 and must have, in addition, had a non-disjunction of her normal and her deleted No. 9 in order to produce the unbalanced state in her daughter.

MeSH Terms

Chromosome Aberrations Chromosomes/analysis Chromosomes, Human, 6-12 and X Face/abnormalities Female Humans Karyotyping Pedigree Sex Characteristics Syndrome Translocation, Genetic Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Mason M K

Spencer D A

Rutter A

References (10)

10 references, click to expand

Chromosome preparations of leukocytes cultured from human peripheral blood.
Exp Cell Res. 1960 Sep;20:613-6 PMID: 13772379
[Giemsa-R-banding analysis of the trisomy 9p and report of a new case].
Humangenetik. 1973 Apr 16;18(2):129-38 PMID: 4124236
A rapid banding technique for human chromosomes.
Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917
Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations.
J Pediatr. 1974 Jul;85(1):92-5 PMID: 4855265
[Digital and palmar dermatoglyphics in normal patients of the population of São Paulo].
Rev Paul Med. 1969 Jul 1;75(1):1-10 PMID: 5371612
[Partial C trisomy through translocation t(Cp-;Gp-)].
Ann Genet. 1969 Mar;12(1):36-45 PMID: 5306710
[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].
Ann Genet. 1970 Dec;13(4):217-32 PMID: 5313386
An intersexual infant with an extra chromosome.
Ann Genet. 1968 Jun;11(2):88-94 PMID: 5303428
Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.
Humangenetik. 1971;12(3):175-81 PMID: 5563410
A new case of trisomy for the short arm of No. 9 chromosome.
J Med Genet. 1973 Sep;10(3):296-9 PMID: 4774540

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.12.3.310

Published

1975-09-00

Pages

310-4

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013298

Subset

External Links

PubMed source DOI: 10.1136/jmg.12.3.310 PMC Full Text View journal details

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A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).

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