Clin Genet. 1988 Nov;34(5):283-7.

Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.

Maserati E, Ottolini A, Veggiotti P, Lanzi G, Pasquali F.

Source

Biologia Generale e Genetica Medica, Università di Pavia, Italy.

Abstract

Two sisters, 11 and 9 years old respectively, had the clinical features of a progressive neurological disorder similar to the ataxia-telangiectasia (AT) syndrome. The two patients have ataxia and chromosome instability with rearrangements of chromosomes 7 and 14 but no telangiectasia, nor the range of immunological anomalies typical of AT. Comparison with similar cases from the literature leads to the conclusion that either there is a specific disorder characterized by ataxia-without-telangiectasia and with the same cytogenetic pattern of AT, or AT shows a wider variability of phenotypic expression than thought before.

PMID:: 3228996; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Other Literature Sources

IndexCopernicus

Medical

Research Materials

Coriell Cell Repositories

Supplemental Content

Save items

Related citations in PubMed

Review A new chromosomal instability disorder confirmed by complementation studies. [Clin Genet. 1988]
Review A new chromosomal instability disorder confirmed by complementation studies.
Wegner RD, Metzger M, Hanefeld F, Jaspers NG, Baan C, Magdorf K, Kunze J, Sperling K. Clin Genet. 1988 Jan; 33(1):20-32.
Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia. [Eur Neurol. 1992]
Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.
Lanzi G, Balottin U, Franciotta D, Maserati E, Ottolini A, Pasquali F, Veggiotti P. Eur Neurol. 1992; 32(3):121-5.
Review The cytogenetics of ataxia telangiectasia. [Cancer Genet Cytogenet. 1991]
Review The cytogenetics of ataxia telangiectasia.
Kojis TL, Gatti RA, Sparkes RS. Cancer Genet Cytogenet. 1991 Oct 15; 56(2):143-56.
Cytogenetic investigations in a family with ataxia telangiectasia. [Hum Genet. 1989]
Cytogenetic investigations in a family with ataxia telangiectasia.
Humphreys MW, Nevin NC, Wooldridge MA. Hum Genet. 1989 Aug; 83(1):79-82.
[Clinico-genetic diagnosis of ataxia telangiectatica (Louis-Bar syndrome)]. [Nervenarzt. 1993]
[Clinico-genetic diagnosis of ataxia telangiectatica (Louis-Bar syndrome)].
Fuhrmann E, Pfeiffer L, Zschenderlein R, Leonhardt T, Melster U, Kölmel HW. Nervenarzt. 1993 Feb; 64(2):140-2.

See reviews... See all...

Cited by 2 PubMed Central articles

Genotype-phenotype relationships in ataxia-telangiectasia and variants. [Am J Hum Genet. 1998]
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A. Am J Hum Genet. 1998 Mar; 62(3):551-61.
Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. [J Med Genet. 1994]
Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.
Hannan MA, Sigut D, Waghray M, Gascon GG. J Med Genet. 1994 Dec; 31(12):953-6.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
BioSample
BioSample links
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes ...
Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.
Clin Genet. 1988 Nov ;34(5):283-7.

PubMed
Age-associated changes in subpopulations of human lymphocytes.
Age-associated changes in subpopulations of human lymphocytes.
Clin Immunol Immunopathol. 1977 Jan ;7(1):139-49.

PubMed
A progressive shuttle run test to estimate maximal oxygen uptake.
A progressive shuttle run test to estimate maximal oxygen uptake.
Br J Sports Med. 1988 Dec ;22(4):141-4.

PubMed
Adoption and maintenance of lifestyle modifications.
Adoption and maintenance of lifestyle modifications.
Am J Prev Med. 1988 Nov-Dec ;4(6):349-52.

PubMed
The mystery of RSI.
The mystery of RSI.
Am Psychol. 1988 Dec ;43(12):1004-15.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: