Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11).

Human genetics ·Vol. 42 ·No. 3 ·1978-06-27 ·Pages 251-6

Habedank M, Faust J

Abstract

Two sisters are described, each with a specific retardation syndrome due to a balanced reciprocal translocation 9p;21q in the mother. As a result of different 3:1 segregations, one of them has a trisomy 9p with all typical features; the other one reveals a typical Down's syndrome having an unusual translocation karyotype.

MeSH Terms

Adolescent Adult Azure Stains Child, Preschool Chromosomes/ultrastructure Chromosomes, Human, 21-22 and Y Chromosomes, Human, 6-12 and X Down Syndrome/genetics Female Humans Karyotyping Pedigree Quinacrine Translocation, Genetic Trisomy

Chemicals

Azure Stains Quinacrine

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Habedank M

Faust J

References (12)

12 references, click to expand

The G-banded prophase chromosomes of man.
Humangenetik. 1975;27(3):167-72 PMID: 50274
Trisomy 9p syndrome and XYY syndrome in siblings.
Clin Genet. 1977 Jan;11(1):67-72 PMID: 830451
[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
Trisomy 9p resulting from maternal 9/21 translocation.
Hum Genet. 1976 May 19;32(2):217-20 PMID: 944684
Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state.
Humangenetik. 1975 Sep 23;29(3):207-16 PMID: 126210
Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.
J Med Genet. 1975 Mar;12(1):29-43 PMID: 123589
Banding in human chromosomes treated with trypsin.
Nat New Biol. 1972 Jan 12;235(54):52-4 PMID: 4109406
Identification of human chromosomes by DNA-binding fluorescent agents.
Chromosoma. 1970;30(2):215-27 PMID: 4193398
[Giemsa-R-banding analysis of the trisomy 9p and report of a new case].
Humangenetik. 1973 Apr 16;18(2):129-38 PMID: 4124236
Genetics of the +p9 syndrome.
Hum Genet. 1976 Apr 15;32(1):23-33 PMID: 770307
47,+(9q-) in unrelated three children with plasma growth hormone deficiency.
Hum Genet. 1976 Mar 12;31(3):271-82 PMID: 955626
Autosomal chromosome aberrations. A review of the clinical syndromes caused by structural chromosome aberrations, mosaic-trisomies 8 and 9, and triploidy.
Ergeb Inn Med Kinderheilkd. 1976;38:37-94 PMID: 782877

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00291304

Published

1978-06-27

Pages

251-6

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00291304 View journal details

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Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11).

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