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Review
. 2004 Sep;57(9):1004-6.
doi: 10.1136/jcp.2004.017475.

A case of 49,XXXXX in which the extra X chromosomes were maternal in origin

Y G Cho  1 , D S Kim, H S Lee, S C Cho, S I Choi
Affiliations
Review

A case of 49,XXXXX in which the extra X chromosomes were maternal in origin

Y G Cho et al. J Clin Pathol. 2004 Sep.

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.

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Figures

Figure 1
Figure 1
The results of a molecular and cytogenetic study in our case. (A) The karyotype of our patient showing 49,XXXXX (G banding; original magnification, ×1000). (B) Marker map, red arrows indicate informative markers and blue arrows non-informative markers. (C) The results of microsatellite analysis. The peaks of three informative X linked markers (DXS1001, DXS1047, and DXS8019) seen in the extra X chromosomes of our case are the same as those of her mother.
Figure 2
Figure 2
(A) Photograph showing the facial appearance of the patient 11 months after birth. Characteristic facial features such as hypertelorism, a flat broad nose, and micrognathia are well portrayed. (B) Cleft in the soft palate of our patient.
See this image and copyright information in PMC

References

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