Case Reports
doi: 10.1136/jmg.23.3.260.
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings
- PMID: 3723557
- PMCID: PMC1049640
- DOI: 10.1136/jmg.23.3.260
Item in Clipboard
Case Reports
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings
J Med Genet.
1986 Jun.
Abstract
We describe a stillborn female infant with severe intrauterine growth retardation and multiple congenital anomalies. She was found to have a deletion of 13q22----qter and trisomy of 18p11.2----pter, resulting from a maternal balanced translocation.
Similar articles
-
Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.Genet Couns. 2011;22(1):35-40. Genet Couns. 2011. PMID: 21614986
-
Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q.J Genet Hum. 1977 Dec;25(4):295-301. J Genet Hum. 1977. PMID: 599332
-
Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11).Ann Genet. 1978 Mar;21(1):60-4. Ann Genet. 1978. PMID: 308346
-
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.Prenat Diagn. 2001 May;21(5):346-50. doi: 10.1002/pd.63. Prenat Diagn. 2001. PMID: 11360273 Review.
-
Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.Eur J Pediatr. 2012 Jul;171(7):1047-53. doi: 10.1007/s00431-012-1682-z. Eur J Pediatr. 2012. PMID: 22302461 Review.
References
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
