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Further delineation of 7p trisomy. Case report and review of literature.
Ann Genet. 1996; 39(3):152-8.AG

Abstract

The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This entity, although several lengths of duplicated fragment or mosaicism, is characterized by high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. The phenotypic pattern seems to be similar in all the patients, although the association of anomalies appears to be correlated to the extension of the duplicated fragments.

Authors+Show Affiliations

Cattedra di Pediatria Preventiva e Sociale, Università G. d'Annunzio, Chieti, Italia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8839888

Citation

Pallotta, R, et al. "Further Delineation of 7p Trisomy. Case Report and Review of Literature." Annales De Genetique, vol. 39, no. 3, 1996, pp. 152-8.
Pallotta R, Dalprà L, Fusilli P, et al. Further delineation of 7p trisomy. Case report and review of literature. Ann Genet. 1996;39(3):152-8.
Pallotta, R., Dalprà, L., Fusilli, P., & Zuffardi, O. (1996). Further delineation of 7p trisomy. Case report and review of literature. Annales De Genetique, 39(3), 152-8.
Pallotta R, et al. Further Delineation of 7p Trisomy. Case Report and Review of Literature. Ann Genet. 1996;39(3):152-8. PubMed PMID: 8839888.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further delineation of 7p trisomy. Case report and review of literature. AU - Pallotta,R, AU - Dalprà,L, AU - Fusilli,P, AU - Zuffardi,O, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 152 EP - 8 JF - Annales de genetique JO - Ann Genet VL - 39 IS - 3 N2 - The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This entity, although several lengths of duplicated fragment or mosaicism, is characterized by high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. The phenotypic pattern seems to be similar in all the patients, although the association of anomalies appears to be correlated to the extension of the duplicated fragments. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/8839888/Further_delineation_of_7p_trisomy__Case_report_and_review_of_literature_ DB - PRIME DP - Unbound Medicine ER -