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A case of 49,XXXXX in which the extra X chromosomes were maternal in origin
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  1. Y G Cho1,
  2. D S Kim1,
  3. H S Lee1,
  4. S C Cho2,
  5. S I Choi3
  1. 1Department of Laboratory Medicine, Chonbuk National University Medical School, Chonbuk National University, 634-18 Keumam-dong, Dukjin-ku, Jeonju 561-712, Korea
  2. 2Department of Paediatrics, Chonbuk National University Medical School
  3. 3Department of Laboratory Medicine, Chonbuk National University Medical School and Research Institute of Clinical Medicine, Chonbuk National University
  1. Correspondence to:
 Dr S I Choi
 Department of Laboratory Medicine, Chonbuk National University Medical School and Research Institute of Clinical Medicine, Chonbuk National University, 634-18 Keumam-dong, Dukjin-ku, Jeonju 561-712, Korea; choisichonbuk.ac.kr

Abstract

This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a result of dilatation of both lateral ventricles, hyperextensible elbow joints, proximal radioulnar synostosis, clinodactyly of the fifth finger, valgus of the feet, and small hands and feet. In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions.

  • pentasomy X
  • chromosomal abnormality
  • mental retardation
  • facial abnormalities

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