Am J Med Genet. 1991 Feb-Mar;38(2-3):283-7.

Fragile X checklist.

Source

Child Development Unit, Children's Hospital, Denver, CO 80218.

Abstract

A 13-item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed before we obtained cytogenetic results. Fifteen males were fra(X)-positive and the manifestations that differentiated fra(X)-positive and fra(X)-negative patients included perseverative speech, large or prominent ears, large testicles, and tactile defensiveness. The combination of physical and behavioral traits is helpful in suggesting the diagnosis and identifying high-risk patients. A total score of 16 or higher had a significant yield of fra(X)-positive patients (greater than or equal to 45%).

Comment in

Am J Med Genet. 1999 May 28;84(3):202-3.

PMID:: 2018072; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

LinkOut - more resources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

A 15-item checklist for screening mentally retarded males for the fragile X syndrome. [Clin Genet. 1991]
A 15-item checklist for screening mentally retarded males for the fragile X syndrome.
Butler MG, Mangrum T, Gupta R, Singh DN. Clin Genet. 1991 May; 39(5):347-54.
Institutional screening for the fragile X syndrome. [Am J Dis Child. 1988]
Institutional screening for the fragile X syndrome.
Hagerman R, Berry R, Jackson AW 3rd, Campbell J, Smith AC, McGavran L. Am J Dis Child. 1988 Nov; 142(11):1216-21.
Fragile X screening program in New York State. [Am J Med Genet. 1991]
Fragile X screening program in New York State.
Nolin SL, Snider DA, Jenkins EC, Brown WT, Krawczun M, Stetka D, Houck G Jr, Dobkin CS, Strong G, Smith-Dobransky G. Am J Med Genet. 1991 Feb-Mar; 38(2-3):251-5.
Review What is associated with the fragile X syndrome? [Am J Med Genet. 1993]
Review What is associated with the fragile X syndrome?
Fisch GS. Am J Med Genet. 1993 Jul 15; 48(2):112-21.
Review Cytogenetic guidelines for fragile X studies tested in routine practice. [Am J Med Genet. 1992]
Review Cytogenetic guidelines for fragile X studies tested in routine practice.
Dewald GW, Buckley DD, Spurbeck JL, Jalal SM. Am J Med Genet. 1992 Dec 1; 44(6):816-21.

See reviews... See all...

Cited by 10 PubMed Central articles

Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry. [J Neurosci. 2011]
Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry.
Hays SA, Huber KM, Gibson JR. J Neurosci. 2011 Oct 5; 31(40):14223-34.
Towards a neurodevelopmental model of clinical case formulation. [Psychiatr Clin North Am. 2009]
Towards a neurodevelopmental model of clinical case formulation.
Solomon M, Hessl D, Chiu S, Olsen E, Hendren RL. Psychiatr Clin North Am. 2009 Mar; 32(1):199-211.
Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome. [J Neurophysiol. 2008]
Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome.
Gibson JR, Bartley AF, Hays SA, Huber KM. J Neurophysiol. 2008 Nov; 100(5):2615-26. Epub 2008 Sep 10.

See all...

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.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Fragile X checklist.
Fragile X checklist.
Am J Med Genet. 1991 Feb-Mar ;38(2-3):283-7.

PubMed
Uncemented and cemented primary total hip arthroplasty in the Swedish Hip Arthro...
Uncemented and cemented primary total hip arthroplasty in the Swedish Hip Arthroplasty Register.
Acta Orthop. 2010 Feb ;81(1):34-41.

PubMed
Dz13, a c-jun DNAzyme, is a potent inducer of caspase-2 activation.
Dz13, a c-jun DNAzyme, is a potent inducer of caspase-2 activation.
Oligonucleotides. 2010 Jun ;20(3):137-46.

PubMed
Good reason to fear tobacco's cost.
Good reason to fear tobacco's cost.
Occup Health Saf. 2010 Feb ;79(2):4.

PubMed
Identification of 17 independent mutations responsible for human hypoxanthine-gu...
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Am J Hum Genet. 1991 May ;48(5):951-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: