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J Pediatr Genet 2017; 06(03): 174-176
DOI: 10.1055/s-0037-1598027
Case Report
Georg Thieme Verlag KG Stuttgart · New York

First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X

Yavuz Şahin
1   Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey
,
Aysegül Özcan
2   Department of Medical Genetics, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey
› Institutsangaben
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Publikationsverlauf

11. Oktober 2016

15. Dezember 2016

Publikationsdatum:
18. Januar 2017 (online)

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Abstract

49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopaedics, psychiatry, and clinical genetic evaluations. To our knowledge, our cases are the first to report the sibling patients with 49,XXXXY and 45,X.

Keywords

49,XXXXY - 45,X - meiotic segregation
 

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