Literature DB >> 3723557

Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.

D Beneck, M A Greco, S R Wolman, L E McMorrow, V Jansen, J Cason.   

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.

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Year:  1986        PMID： 3723557      PMCID： PMC1049640          DOI： 10.1136/jmg.23.3.260

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Deletion of long arms of chromosome 13.

Authors:  M Kucerovă; Z Polívková; M Pokorná
Journal:  Humangenetik       Date:  1975

2.  Chromosome banding patterns in an infant with 13q minus syndrome.

Authors:  T Ikeuchi; S Sonta; M Sasaki; M Hujita; K Tsunematsu
Journal:  Humangenetik       Date:  1974-03-28

3.  The 13q-deletion syndrome.

Authors:  P W Allderdice; J G Davis; O J Miller; H P Klinger; D Warburton; D A Miller; F H Allen; C A Abrams; E McGilvray
Journal:  Am J Hum Genet       Date:  1969-09       Impact factor: 11.025

4.  Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

Authors:  M Habedank; G Trost-Brinkhues
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

5.  Trisomy 18q-. Trisomy mapping of chromosome 18 revisited.

Authors:  C Turleau; F Chavin-Colin; R Narbouton; D Asensi; J de Grouchy
Journal:  Clin Genet       Date:  1980-07       Impact factor: 4.438

6.  Congenital absence of the pancreas and intrauterine growth retardation.

Authors:  J A Lemons; R Ridenour; E N Orsini
Journal:  Pediatrics       Date:  1979-08       Impact factor: 7.124

7.  Multiple skeletal anomalies in the "13q-" syndrome.

Authors:  J Chemke; E Fishel; M Zalish; M Sagiv
Journal:  Eur J Pediatr       Date:  1978-05-22       Impact factor: 3.183
  7 in total

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