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[Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism].
Bol Med Hosp Infant Mex. 1989 Jun; 46(6):417-21.BM

Abstract

A two year five months old girl is presented with chromosomic complement 47,XXX/48,XXXX/49,XXXXX and presence of 2, 3 and 4 corpuscles in the nuclei of epithelial cells of oral mucosa. It is clinically characterized by short stature, mental retardation, generalized hypotony, bilateral elbow sub-luxation, mesotaurodontism and patent ductus arteriosus. The comparison of the clinical findings between the reported mosaics and the present case indicate the dealing with a specific pattern, recognizable clinically. In the etiologic analysis of this disease the review of pertinent literature suggests the occurrence of successive non-disjunction of the chromosomes X in more than one postzygotic divisions originating more than two stem-cell lines.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article
Review

Language

spa

PubMed ID

2665783

Citation

Gómez-Valencia, L, et al. "[Penta-X Syndrome. Report of a Case With 47,XXX/48,XXXX/49,XXXXX Mosaicism]." Boletin Medico Del Hospital Infantil De Mexico, vol. 46, no. 6, 1989, pp. 417-21.
Gómez-Valencia L, Nájera-Martínez P, Morales-Hernández A, et al. [Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism]. Bol Med Hosp Infant Mex. 1989;46(6):417-21.
Gómez-Valencia, L., Nájera-Martínez, P., Morales-Hernández, A., & Martínez-Díaz De León, A. (1989). [Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism]. Boletin Medico Del Hospital Infantil De Mexico, 46(6), 417-21.
Gómez-Valencia L, et al. [Penta-X Syndrome. Report of a Case With 47,XXX/48,XXXX/49,XXXXX Mosaicism]. Bol Med Hosp Infant Mex. 1989;46(6):417-21. PubMed PMID: 2665783.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism]. AU - Gómez-Valencia,L, AU - Nájera-Martínez,P, AU - Morales-Hernández,A, AU - Martínez-Díaz De León,A, PY - 1989/6/1/pubmed PY - 1989/6/1/medline PY - 1989/6/1/entrez SP - 417 EP - 21 JF - Boletin medico del Hospital Infantil de Mexico JO - Bol Med Hosp Infant Mex VL - 46 IS - 6 N2 - A two year five months old girl is presented with chromosomic complement 47,XXX/48,XXXX/49,XXXXX and presence of 2, 3 and 4 corpuscles in the nuclei of epithelial cells of oral mucosa. It is clinically characterized by short stature, mental retardation, generalized hypotony, bilateral elbow sub-luxation, mesotaurodontism and patent ductus arteriosus. The comparison of the clinical findings between the reported mosaics and the present case indicate the dealing with a specific pattern, recognizable clinically. In the etiologic analysis of this disease the review of pertinent literature suggests the occurrence of successive non-disjunction of the chromosomes X in more than one postzygotic divisions originating more than two stem-cell lines. SN - 0539-6115 UR - https://www.unboundmedicine.com/medline/citation/2665783/[Penta_X_syndrome__Report_of_a_case_with_47XXX/48XXXX/49XXXXX_mosaicism]_ L2 - http://www.diseaseinfosearch.org/result/45 DB - PRIME DP - Unbound Medicine ER -