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[Sex chromosome abnormality: report of three clinical cases of X pentasomy].
Pathologica 2003; 95(6):444-6P

Abstract

Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.

Authors+Show Affiliations

Struttura Complessa Anatomia ed Istologia Patologica, Ospedale S. Andrea, ASL 11, Vercelli, Italia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

ita

PubMed ID

15080523

Citation

Biroli, E, et al. "[Sex Chromosome Abnormality: Report of Three Clinical Cases of X Pentasomy]." Pathologica, vol. 95, no. 6, 2003, pp. 444-6.
Biroli E, Ghimenti C, Ricci I, et al. [Sex chromosome abnormality: report of three clinical cases of X pentasomy]. Pathologica. 2003;95(6):444-6.
Biroli, E., Ghimenti, C., Ricci, I., Pirola, B., Liverani, M. E., Perona, A., ... Angeli, G. (2003). [Sex chromosome abnormality: report of three clinical cases of X pentasomy]. Pathologica, 95(6), pp. 444-6.
Biroli E, et al. [Sex Chromosome Abnormality: Report of Three Clinical Cases of X Pentasomy]. Pathologica. 2003;95(6):444-6. PubMed PMID: 15080523.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Sex chromosome abnormality: report of three clinical cases of X pentasomy]. AU - Biroli,E, AU - Ghimenti,C, AU - Ricci,I, AU - Pirola,B, AU - Liverani,M E, AU - Perona,A, AU - Galligani,L, AU - Guala,A, AU - Angeli,G, PY - 2004/4/15/pubmed PY - 2004/5/11/medline PY - 2004/4/15/entrez SP - 444 EP - 6 JF - Pathologica JO - Pathologica VL - 95 IS - 6 N2 - Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature. SN - 0031-2983 UR - https://www.unboundmedicine.com/medline/citation/15080523/[Sex_chromosome_abnormality:_report_of_three_clinical_cases_of_X_pentasomy]_ DB - PRIME DP - Unbound Medicine ER -