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Pentasomy X: report of patient and studies of X-inactivation.
Am J Med Genet. 1981; 8(1):27-33.AJ

Abstract

A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral stasis, pyelonephritis, and renal failure. Five X chromosomes (49,XXXXX) were found in all peripheral blood lymphocytes and skin fibroblasts examined. Xa RBC typing, utilizing serial dilutions of antiserum, gave agglutination at a higher titer than in either Xg(a+) positive parent; the patient's serum IgM was also elevated. These immunological findings imply a lack of dosage compensation and incomplete inactivation of some X-linked loci.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7246603

Citation

Funderburk, S J., et al. "Pentasomy X: Report of Patient and Studies of X-inactivation." American Journal of Medical Genetics, vol. 8, no. 1, 1981, pp. 27-33.
Funderburk SJ, Valente M, Klisak I. Pentasomy X: report of patient and studies of X-inactivation. Am J Med Genet. 1981;8(1):27-33.
Funderburk, S. J., Valente, M., & Klisak, I. (1981). Pentasomy X: report of patient and studies of X-inactivation. American Journal of Medical Genetics, 8(1), 27-33.
Funderburk SJ, Valente M, Klisak I. Pentasomy X: Report of Patient and Studies of X-inactivation. Am J Med Genet. 1981;8(1):27-33. PubMed PMID: 7246603.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pentasomy X: report of patient and studies of X-inactivation. AU - Funderburk,S J, AU - Valente,M, AU - Klisak,I, PY - 1981/1/1/pubmed PY - 1981/1/1/medline PY - 1981/1/1/entrez SP - 27 EP - 33 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 8 IS - 1 N2 - A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral stasis, pyelonephritis, and renal failure. Five X chromosomes (49,XXXXX) were found in all peripheral blood lymphocytes and skin fibroblasts examined. Xa RBC typing, utilizing serial dilutions of antiserum, gave agglutination at a higher titer than in either Xg(a+) positive parent; the patient's serum IgM was also elevated. These immunological findings imply a lack of dosage compensation and incomplete inactivation of some X-linked loci. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7246603/Pentasomy_X:_report_of_patient_and_studies_of_X_inactivation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1981&volume=8&issue=1&spage=27 DB - PRIME DP - Unbound Medicine ER -