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The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism.
Acta Paediatr Scand. 1979 Sep; 68(5):769-71.AP

Abstract

A patient with 48XXXX/49XXXXX mosaicism is presented. Clinical findings include severe growth and developmental retardation, hypertelorism, mongoloid slant of the palpebral fissures, clinodactyly of the fifth fingers, retarded bone age and radio-ulnar synostosis. The findings are similar to those of the cases with a penta-X chromosome complement already described, and are also similar to the signs of the more common 49XXXXY syndrome of males. In both instances the dysmorphic features are less impressive than the mental retardation and the skeletal malformations. This report contributes to a better delineation of the 49XXXXX syndrome. The possible mechanisms of the chromosomal aberration are discussed.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

525347

Citation

Cirillo Silengo, M, et al. "The 49XXXXX Syndrome. Report of a Case With 48XXXX/49XXXXX Mosaicism." Acta Paediatrica Scandinavica, vol. 68, no. 5, 1979, pp. 769-71.
Cirillo Silengo M, Davi GF, Franceschini P. The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism. Acta Paediatr Scand. 1979;68(5):769-71.
Cirillo Silengo, M., Davi, G. F., & Franceschini, P. (1979). The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism. Acta Paediatrica Scandinavica, 68(5), 769-71.
Cirillo Silengo M, Davi GF, Franceschini P. The 49XXXXX Syndrome. Report of a Case With 48XXXX/49XXXXX Mosaicism. Acta Paediatr Scand. 1979;68(5):769-71. PubMed PMID: 525347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism. AU - Cirillo Silengo,M, AU - Davi,G F, AU - Franceschini,P, PY - 1979/9/1/pubmed PY - 1979/9/1/medline PY - 1979/9/1/entrez SP - 769 EP - 71 JF - Acta paediatrica Scandinavica JO - Acta Paediatr Scand VL - 68 IS - 5 N2 - A patient with 48XXXX/49XXXXX mosaicism is presented. Clinical findings include severe growth and developmental retardation, hypertelorism, mongoloid slant of the palpebral fissures, clinodactyly of the fifth fingers, retarded bone age and radio-ulnar synostosis. The findings are similar to those of the cases with a penta-X chromosome complement already described, and are also similar to the signs of the more common 49XXXXY syndrome of males. In both instances the dysmorphic features are less impressive than the mental retardation and the skeletal malformations. This report contributes to a better delineation of the 49XXXXX syndrome. The possible mechanisms of the chromosomal aberration are discussed. SN - 0001-656X UR - https://www.unboundmedicine.com/medline/citation/525347/The_49XXXXX_syndrome__Report_of_a_case_with_48XXXX/49XXXXX_mosaicism_ DB - PRIME DP - Unbound Medicine ER -