Summer 2019 Issue

Volume 11 | Number 2

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Case Reports

2018 Spring Joint Conference

Best Abstract – Case Report

A Suspicious Eye for an Extra X

Nguyen A, Malik T, Nezwek T, Horbey A
Dr. Kiran C. Patel

College of Osteopathic Medicine
Miami Lakes, FL

Introduction: Triple X, also known as 47, XXX (trisomy), is the most frequent extra-X chromosome abnormality in females, affecting 1/1000 live born females. However, as those affected are often born without any distinguishing physical features, only 10% of patients will receive a confirmed diagnosis of trisomy 47, XXX in their lifetime.4 

Case Description: We present the case of a 22-month-old female with a history of plagiocephaly, speech delay, in-toeing and cow milk allergy, who presented with mother to the pediatric clinic for decreased appetite. Patient has worn a cranial helmet for non-surgical correction of plagiocephaly for four months; works with speech therapy but is only able to say four words upon presentation and is currently in physical therapy for in-toeing correction. She is also in the 95th percentile for height. 

Further questioning revealed that the patient’s mother had an abnormal prenatal screening, but was unable to follow-up with an amniocentesis, and due to the “normal” birth, the patient’s mother did not pursue further testing. However, because of global delay, the patient was referred to neurology and a chromosomal micro-array was ordered, which came back positive for 47, XXX. The patient is continued to be followed and has been referred to genetics for further evaluation. 

Discussion: Despite the high frequency of 47, XXX, it is an uncommon diagnosis to make clinically with 90% of patients remaining undiagnosed throughout their lifetime.4 At birth, patients tend to have decreased head circumference and low birth weight. By age two, patients who are diagnosed often show evidence of taller stature, and more importantly, delay in speech and language, and lack of coordination.1

Arguably, the most important issues to a clinician are the behavioral and psychiatric characteristics, as early social and therapeutic support can improve the patient’s quality of life. It is found that Triple X girls living in stable families function better than those in an unstable family2,3 so physicians can help to counsel families on creating supportive structures in order to quell the threat of psychiatric and behavioral predispositions. 

Conclusion: This case illustrates how vital it is obtain both a complete clinical and birth history when assessing a pediatric patient especially when assessing female patients with early developmental delays. This will ensure timely interventions for language disorders, premature ovarian failure as well as potential psychiatric risks, which have been shown to affect these Triple X patients more than the general population. 


  1. In Zitelli, B. J., In McIntire, S. C., & In Nowalk, A. J. (2012). Zitelli and Davis' atlas of pediatric physical diagnosis. Philadelphia, PA: Saunders/Elsevier.
  2. Lenroot, R. K., Blumenthal, J. D., Wallace, G. L., Clasen, L. S., Lee, N. R. & Giedd, J. N. (2014) A case-control study of brain structure.
  3. Netley C.T. (1986) Summary overview of behavioural development in individuals with neonatally identified X and Y aneuploidy. Birth Defects Orig Artic Ser 22, 293-306.
  4. Tartaglia, N. R., Howell, S., Sutherland, A., Wilson, R. & Wilson, L. (2010) A review of trisomy X(47,XXX). Orphanet Journal of Rare Diseases, 5, 8.

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