Fragile X checklist

Randi J Hagerman, K. Amiri, A. Cronister

Research output: Contribution to journalArticle

124 Citations (Scopus)

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 (≥45%).

Original languageEnglish (US)
Pages (from-to)283-287
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume38
Issue number2-3
DOIs
StatePublished - 1991
Externally publishedYes

Fingerprint

Checklist
Fragile X Syndrome
Learning Disorders
Touch
Cytogenetics
Intellectual Disability
Ear
Testis

Keywords

  • macroorchidism
  • Martin-Bell syndrome
  • screening

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Fragile X checklist. / Hagerman, Randi J; Amiri, K.; Cronister, A.

In: American Journal of Medical Genetics, Vol. 38, No. 2-3, 1991, p. 283-287.

Research output: Contribution to journalArticle

Hagerman, Randi J ; Amiri, K. ; Cronister, A. / Fragile X checklist. In: American Journal of Medical Genetics. 1991 ; Vol. 38, No. 2-3. pp. 283-287.
@article{c80776798ae04774b72505017776f709,
title = "Fragile X checklist",
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 (≥45{\%}).",
keywords = "macroorchidism, Martin-Bell syndrome, screening",
author = "Hagerman, {Randi J} and K. Amiri and A. Cronister",
year = "1991",
doi = "10.1002/ajmg.1320380223",
language = "English (US)",
volume = "38",
pages = "283--287",
journal = "American Journal of Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2-3",

}

TY - JOUR

T1 - Fragile X checklist

AU - Hagerman, Randi J

AU - Amiri, K.

AU - Cronister, A.

PY - 1991

Y1 - 1991

N2 - 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 (≥45%).

AB - 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 (≥45%).

KW - macroorchidism

KW - Martin-Bell syndrome

KW - screening

UR - http://www.scopus.com/inward/record.url?scp=0025976185&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025976185&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320380223

DO - 10.1002/ajmg.1320380223

M3 - Article

C2 - 2018072

AN - SCOPUS:0025976185

VL - 38

SP - 283

EP - 287

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4825

IS - 2-3

ER -