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Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males

Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in... Fragile X syndrome is the leading form of hereditary mental retardation, but the condition is still underdiagnosed in young children. Because of concern that the fragile X phenotype is subtle in young boys and therefore contributes to underdiagnosis of the disorder, we evaluated 73 boys (36 with fragile X and 37 same‐age boys who were fragile X negative) using a checklist that we devised to learn which characteristics might be the most useful for alerting professionals to this diagnosis. After a multiple comparisons adjustment, only 4 of 42 characteristics differed significantly in their distributions between the two groups of boys (P < 0.0012), but 10 other items may also have predictive value for fragile X syndrome (P < 0.01). Four additional items occurred in at least 80% of boys with fragile X and may also be helpful for the clinician. Professionals who work with developmentally delayed children should be aware of these 18 clinical characteristics and some of the behavior characteristics commonly seen in boys with fragile X so that they can readily diagnose patients. Am. J. Med. Genet. 92:229–236, 2000. © 2000 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males

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Publisher
Wiley
Copyright
Copyright © 2000 Wiley‐Liss, Inc.
ISSN
1552-4868
eISSN
1552-4833
DOI
10.1002/(SICI)1096-8628(20000605)92:4<229::AID-AJMG1>3.3.CO;2-B
Publisher site
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Abstract

Fragile X syndrome is the leading form of hereditary mental retardation, but the condition is still underdiagnosed in young children. Because of concern that the fragile X phenotype is subtle in young boys and therefore contributes to underdiagnosis of the disorder, we evaluated 73 boys (36 with fragile X and 37 same‐age boys who were fragile X negative) using a checklist that we devised to learn which characteristics might be the most useful for alerting professionals to this diagnosis. After a multiple comparisons adjustment, only 4 of 42 characteristics differed significantly in their distributions between the two groups of boys (P < 0.0012), but 10 other items may also have predictive value for fragile X syndrome (P < 0.01). Four additional items occurred in at least 80% of boys with fragile X and may also be helpful for the clinician. Professionals who work with developmentally delayed children should be aware of these 18 clinical characteristics and some of the behavior characteristics commonly seen in boys with fragile X so that they can readily diagnose patients. Am. J. Med. Genet. 92:229–236, 2000. © 2000 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics – Wiley

Published: Jun 5, 2000

Keywords: fragile X syndrome; prepubertal boys; physical characteristics

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