An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.

Journal of medical genetics ·Vol. 10 ·No. 4 ·1973-12-00 ·Pages 379-84

Borgaonkar DS, McKusick VA, Farber PA

Abstract

暂无摘要

MeSH Terms

Abnormalities, Multiple/genetics Adult Body Height Body Weight Child, Preschool Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, 16-18 Chromosomes, Human, 21-22 and Y Dermatoglyphics Female Humans Intellectual Disability Intelligence Tests Karyotyping Male Maternal Age Pedigree Staining and Labeling

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Borgaonkar D S

McKusick V A

Farber P A

References (10)

10 references, click to expand

Familial extra centric bisatellited chromosome.
Cytogenetics. 1969;8(3):177-86 PMID: 4240817
The syndrome of the metacentric microchromosome.
Helv Paediatr Acta. 1970 Jan;25(1):83-94 PMID: 4392428
Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.
J Pediatr. 1970 Apr;76(4):594-7 PMID: 5420796
Evaluation of dermal patterns in Down's syndrome by predictive discrimination. I. Preliminary analysis based on frequencies of patterns.
Johns Hopkins Med J. 1971 Mar;128(3):141-52 PMID: 4251839
Tertiary trisomy in a human kindred containing an E/G translocation.
Am J Hum Genet. 1971 Sep;23(5):431-41 PMID: 5092595
Report of five unrelated patients with a small, metacentric, extra chromosome or fragment.
J Genet Hum. 1971 Sep;19(3):207-22 PMID: 5150016
Cat-eye syndrome, a partial trisomy 22.
Humangenetik. 1972;15(2):150-62 PMID: 5049068
An 18p21q translocation in a patient with presumptive "monosomy G".
Am J Dis Child. 1972 Dec;124(6):908-10 PMID: 4639227
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
CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.
Lancet. 1965 Aug 7;2(7406):290 PMID: 14330081

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.10.4.379

Published

1973-12-00

Pages

379-84

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013061

Subset

External Links

PubMed source DOI: 10.1136/jmg.10.4.379 PMC Full Text View journal details

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An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.

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