A 13-year-old girl with karyotype 47, XX, +i (22) (qll).

Journal of medical genetics ·Vol. 18 ·No. 1 ·1981-02-00 ·Pages 61-4

Smith A, Fraser IS, Shearman RP

Abstract

暂无摘要

MeSH Terms

Adolescent Chromosomes, Human/ultrastructure Chromosomes, Human, 21-22 and Y Female Humans Intellectual Disability/genetics Karyotyping Phenotype Puberty, Delayed/genetics Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Smith A

Fraser I S

Shearman R P

References (13)

13 references, click to expand

Localization of heterochromatin in human chromosomes.
Cytogenetics. 1971;10(2):81-6 PMID: 4106483
A rapid banding technique for human chromosomes.
Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917
Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities.
Clin Genet. 1972;3(4):226-48 PMID: 4262353
A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.
Humangenetik. 1974 Jan 22;21(1):55-8 PMID: 4134931
Bisatellited extra small metacentric chromosome in newborns.
Clin Genet. 1974;6(1):23-31 PMID: 4426127
Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome.
Ann Genet. 1975 Mar;18(1):45-9 PMID: 50042
Cytogenetic survey of 504 mentally retarded individuals.
J Ment Defic Res. 1974 Dec;18(4):293-305 PMID: 4282744
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
Clin Genet. 1975 Oct;8(4):223-43 PMID: 1183067
Partial trisomy 22: a recognizable syndrome.
Clin Genet. 1977 Jul;12(1):9-16 PMID: 891009
Further delineation of the supernumerary chromosome in the Cat-Eye syndrome.
Clin Genet. 1977 Nov;12(5):275-84 PMID: 412629
The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship.
Hum Genet. 1978 Jul 12;43(1):111-4 PMID: 149756
A rapid technique for producing silver-stained nucleolus organizer regions and trypsin-giemsa bands on human chromosomes.
Hum Genet. 1978 Jul 12;43(1):53-6 PMID: 352910
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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.18.1.61

Published

1981-02-00

Pages

61-4

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1048661

Subset

External Links

PubMed source DOI: 10.1136/jmg.18.1.61 PMC Full Text View journal details

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A 13-year-old girl with karyotype 47, XX, +i (22) (qll).

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