Multiple congenital defects associated with trisomy for long arm of No. 4.

Journal of medical genetics ·Vol. 13 ·No. 4 ·1976-08-00 ·Pages 326-9

Issa M, Potter AM, Blank CE

Abstract

The clinical and cytogenetic findings of a male infant with multiple congenital anomalies and trisomy for the distal third of the long arm of No. 4 are described. The abnormal chromosome was inherited from the mother who had a balanced translocation, t(4;9)(q31;q34). Trisomy for the long arm of No. 4 has previously been described in only 3 patients.

MeSH Terms

Abnormalities, Multiple Chromosomes, Human, 4-5 Dermatoglyphics Humans Infant Infant, Newborn Intellectual Disability Male Pedigree Phenotype Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Issa M

Potter A M

Blank C E

References (18)

18 references, click to expand

Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.
J Med Genet. 1973 Dec;10(4):384-9 PMID: 4129974
A rapid banding technique for human chromosomes.
Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917
Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation.
J Med Genet. 1974 Jun;11(2):201-5 PMID: 4135220
[Analysis of a t translocation (18p+;21q-) by mild denaturation].
Ann Genet. 1971 Dec;14(4):305-7 PMID: 5316135
Familial translocation (3?--;G?- q+) and nondisjunction of chromosome in group G in two unrelated families.
Cytogenetics. 1969;8(5):315-25 PMID: 4242066
[t(7q-; 21q-plus) and familial and trisomy 21].
Ann Genet. 1974 Mar;17(1):49-53 PMID: 4276449
[Translocation t(2q-; 21q+) in three generations].
Ann Genet. 1968 Mar;11(1):28-32 PMID: 4233292
Familial C-G translocation causing mitotic nondisjunction. A cause of familial mosaic Down's syndrome.
Am J Dis Child. 1968 Dec;116(6):609-14 PMID: 4235163
[Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)].
Helv Paediatr Acta. 1967 Dec;22(6):558-64 PMID: 4232885
Maternal transmission of a 21/1 translocation associated with Down's syndrome.
J Pediatr. 1966 Oct;69(4):635-9 PMID: 4224157
Partial trisomy 4 resulting from a 4-18 reciprocal translocation.
Ann Genet. 1972 Sep;15(3):191-4 PMID: 4539769
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
Identification of a familial 19-21 translocation by Q and G band patterns.
Humangenetik. 1973 May 25;18(3):219-24 PMID: 4719633
A rare translocation (47,XY,t(2p-;21q+),21+) associated with Down's syndrome.
J Med Genet. 1970 Dec;7(4):389-93 PMID: 4250981
FAMILIAL DOWN'S SYNDROME WITH UNDETECTED TRANSLOCATION.
J Pediatr. 1965 Sep;67:399-409 PMID: 14339398
Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus.
Clin Genet. 1973;4(1):53-7 PMID: 4120631
Translocation heterozygosity and associated subfertility in man.
Cytogenetics. 1972;11(6):516-33 PMID: 4658180
[Unusual karyotype in a phenotypically normal mother and her 21 trisomic daughter].
Ann Genet. 1969 Jun;12(2):130-2 PMID: 4243779

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.13.4.326

Published

1976-08-00

Pages

326-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013426

Subset

External Links

PubMed source DOI: 10.1136/jmg.13.4.326 PMC Full Text View journal details

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Multiple congenital defects associated with trisomy for long arm of No. 4.

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