Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families-Reference-Cited by-同舟云学术

Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families

Published:2023-11-29 Issue:1 Volume:33 Page:9-15
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Kasole Lubala Toni¹,Kayembe-Kitenge Tony²³,Lubala Nina¹,Kanteng Gray¹,Luboya Oscar¹²,Hagerman Randi⁴,Lukusa-Tshilobo Prosper⁵⁶⁷,Lumaka Aimé⁵⁶⁷

Affiliation:

1. Division of Dysmorphology & Birth Defects, Department of Pediatrics, University of Lubumbashi, Congo

2. Higher Institute of Medical Techniques, Lubumbashi

3. Toxicology and environment unit, University of Lubumbashi, DR Congo

4. Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA

5. Faculté de Médecine, Département de Pédiatrie, Université de Kinshasa, Kinshasa, DR Congo

6. Centre de Génétique Humaine, Institut National de Recherche Biomédicale, Kinshasa, Congo

7. Centre for Human Genetics – Katholieke Universiteit Leuven – Leuven – Belgique

Abstract

This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14–38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ranging from mild (IQ 50–70) to moderate (IQ 35–49) intellectual disability (Average IQ of 60). All our female patients have ID.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

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