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A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.
J Clin Pathol. 2004 Sep; 57(9):1004-6.JC

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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Authors+Show Affiliations

Cho YG
Department of Laboratory Medicine, Chonbuk National University Medical School, Chonbuk National University, 634-18 Keumam-dong, Dukjin-ku, Jeonju 561-712, Korea.
Kim DS
No affiliation info available
Lee HS
No affiliation info available
Cho SC
No affiliation info available
Choi SI
No affiliation info available

MeSH

Abnormalities, MultipleChromosomes, Human, XCytogeneticsFemaleGenetic MarkersHumansInfantKaryotypingMicrosatellite RepeatsMothersSex Chromosome Disorders

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

15333671

Citation

Cho, Y G., et al. "A Case of 49,XXXXX in Which the Extra X Chromosomes Were Maternal in Origin." Journal of Clinical Pathology, vol. 57, no. 9, 2004, pp. 1004-6.
Cho YG, Kim DS, Lee HS, et al. A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. J Clin Pathol. 2004;57(9):1004-6.
Cho, Y. G., Kim, D. S., Lee, H. S., Cho, S. C., & Choi, S. I. (2004). A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. Journal of Clinical Pathology, 57(9), 1004-6.
Cho YG, et al. A Case of 49,XXXXX in Which the Extra X Chromosomes Were Maternal in Origin. J Clin Pathol. 2004;57(9):1004-6. PubMed PMID: 15333671.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. AU - Cho,Y G, AU - Kim,D S, AU - Lee,H S, AU - Cho,S C, AU - Choi,S I, PY - 2004/8/31/pubmed PY - 2004/9/29/medline PY - 2004/8/31/entrez SP - 1004 EP - 6 JF - Journal of clinical pathology JO - J Clin Pathol VL - 57 IS - 9 N2 - 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. SN - 0021-9746 UR - https://www.unboundmedicine.com/medline/citation/15333671/A_case_of_49XXXXX_in_which_the_extra_X_chromosomes_were_maternal_in_origin_ L2 - https://jcp.bmj.com/lookup/pmidlookup?view=long&pmid=15333671 DB - PRIME DP - Unbound Medicine ER -