Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

Human genetics ·Vol. 33 ·No. 3 ·1976-08-30 ·Pages 331-4

Young SR, Donovan DM, Greer HA, Burch K, Potter DC

Abstract

A 3-year-old child with tertiary trisomy (14 (+14q--), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16)(q11;q24) is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.

MeSH Terms

Child, Preschool Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 16-18 Female Humans Pedigree Translocation, Genetic Trisomy

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Young S R

Donovan D M

Greer H A

Burch K

Potter D C

References (10)

10 references, click to expand

New technique for distinguishing between human chromosomes.
Nat New Biol. 1971 Jul 7;232(27):31-2 PMID: 4105244
Tertiary partial 14 trisomy 47, XX, plus 14q minus.
Humangenetik. 1974;24(1):71-7 PMID: 4426632
[T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter].
Ann Genet. 1973 Dec;16(4):281-4 PMID: 4544094
A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.
J Med Genet. 1972 Sep;9(3):367-73 PMID: 5079109
Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-).
J Med Genet. 1972 Sep;9(3):280-6 PMID: 5079098
Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).
Humangenetik. 1973;20(2):187-9 PMID: 4785169
Identification of human chromosomes by DNA-binding fluorescent agents.
Chromosoma. 1970;30(2):215-27 PMID: 4193398
[Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)].
Humangenetik. 1970;10(3):254-68 PMID: 5475510
Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.
Humangenetik. 1971;13(3):205-9 PMID: 5114675
A rapid banding technique for human chromosomes.
Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00286862

Published

1976-08-30

Pages

331-4

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00286862 View journal details

Analysis Services

Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

Contact

WeChat Official Account