Patau's syndrome and 13q21q translocation.

Human genetics ·Vol. 42 ·No. 3 ·1978-06-27 ·Pages 327-31

Pérez-Castillo A, Abrisqueta JA

Abstract

This paper reports the case of a one-day-old male child presenting the typical features of Patau's syndrome. The cytogenetic study by means of conventional techniques and GTG and QFQ banding techniques showed that the chromosomal pattern of the propositus was 46,XYq+,-21,+t(13q21q) 15ps+,22ps+, and that the nondisjunction that originated the translocation and trisomy had occurred in the mother.

MeSH Terms

Azure Stains Chromosomes/ultrastructure Chromosomes, Human, 13-15 Chromosomes, Human, 21-22 and Y Humans Infant, Newborn Karyotyping Male Pedigree Quinacrine Translocation, Genetic Trisomy

Chemicals

Azure Stains Quinacrine

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Pérez-Castillo A

Abrisqueta J A

References (8)

8 references, click to expand

Nonrandomness of translocations in man: preferential entry of chromosomes into 13-15-21 translocations.
Science. 1968 Jul 26;161(3839):371-2 PMID: 4232527
Structure and inheritance of some heterozygous Robertsonian translocation in man.
J Med Genet. 1976 Oct;13(5):381-8 PMID: 1003449
Chromosomal variability in the D1 trisomy syndrome. Three cases and review of the literature.
Am J Dis Child. 1970 Oct;120(4):374-81 PMID: 4250203
Identification of human chromosomes by DNA-binding fluorescent agents.
Chromosoma. 1970;30(2):215-27 PMID: 4193398
Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome.
Humangenetik. 1975 Sep 20;30(3):207-15 PMID: 1184006
An analysis of the break points of structural rearrangements in man.
J Med Genet. 1974 Mar;11(1):50-64 PMID: 4134839
Possible non random selection of D group chromosomes involved in centric-fusion translocations.
Ann Genet. 1969 Sep;12(3):177-83 PMID: 5308544
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/BF00291315

Published

1978-06-27

Pages

327-31

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00291315 View journal details

Analysis Services

Patau's syndrome and 13q21q translocation.

Contact

WeChat Official Account