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18p monosomy with midline defects and a de novo satellite identified by FISH.
Ann Genet. 1997; 40(3):158-63.AG

Abstract

We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.

Authors+Show Affiliations

Laboratoire de Génétique, CHU Pellegrin, Bordeaux, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9401105

Citation

Taine, L, et al. "18p Monosomy With Midline Defects and a De Novo Satellite Identified By FISH." Annales De Genetique, vol. 40, no. 3, 1997, pp. 158-63.
Taine L, Goizet C, Wen ZQ, et al. 18p monosomy with midline defects and a de novo satellite identified by FISH. Ann Genet. 1997;40(3):158-63.
Taine, L., Goizet, C., Wen, Z. Q., Chateil, J. F., Battin, J., Saura, R., & Lacombe, D. (1997). 18p monosomy with midline defects and a de novo satellite identified by FISH. Annales De Genetique, 40(3), 158-63.
Taine L, et al. 18p Monosomy With Midline Defects and a De Novo Satellite Identified By FISH. Ann Genet. 1997;40(3):158-63. PubMed PMID: 9401105.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 18p monosomy with midline defects and a de novo satellite identified by FISH. AU - Taine,L, AU - Goizet,C, AU - Wen,Z Q, AU - Chateil,J F, AU - Battin,J, AU - Saura,R, AU - Lacombe,D, PY - 1997/1/1/pubmed PY - 1997/12/24/medline PY - 1997/1/1/entrez SP - 158 EP - 63 JF - Annales de genetique JO - Ann. Genet. VL - 40 IS - 3 N2 - We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/9401105/18p_monosomy_with_midline_defects_and_a_de_novo_satellite_identified_by_FISH_ DB - PRIME DP - Unbound Medicine ER -