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Literature DB >> 8818953

Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.

C P Chen¹, F F Liu, S W Jan, C P Chen¹, C C Lan.

Abstract

We describe a female stillbirth with duplication of 3q21-->qter and deletion of 11q23-->qter resulting from an unbalanced segregation of a maternal t(3;11) reciprocal translocation. The proband had some of the clinical features consistent with those seen in patients with dup(3q) syndrome or distal del(11q) syndrome. Prenatal sonographic examination showed short limbs, intrauterine growth retardation, and an omphalocele containing the liver.

Entities: Disease Species

Mesh：

Year: 1996 PMID： 8818953 PMCID： PMC1050675 DOI： 10.1136/jmg.33.7.615

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

17 in total

1. Prenatal diagnosis and management of congenital defects of the anterior abdominal wall.

Authors: M Sermer; R J Benzie; L Pitson; M Carr; M Skidmore
Journal: Am J Obstet Gynecol Date: 1987-02 Impact factor: 8.661

2. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

Authors: P Jacobsen; M Hauge; K Henningsen; N Hobolth; M Mikkelsen; J Philip
Journal: Hum Hered Date: 1973 Impact factor: 0.444

3. Early prenatal diagnosis of omphalocele constitutes indication for amniocentesis.

Authors: M Hauge; M Bugge; J Nielsen
Journal: Lancet Date: 1983-08-27 Impact factor: 79.321

4. Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome.

Authors: P Rizzu; A Baldini
Journal: Genomics Date: 1994-12 Impact factor: 5.736

5. The dup(3q) syndrome: report of eight cases and review of the literature.

Authors: P Steinbach; W N Adkins; H Caspar; K W Dumars; J Gebauer; E F Gilbert; T Grimm; M Habedank; I Hansmann; J Herrmann; E G Kaveggia; U Langenbeck; L F Meisner; T M Najafzadeh; J M Opitz; C G Palmer; H H Peters; W Scholz; A S Tavares; C Wiedeking
Journal: Am J Med Genet Date: 1981

Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.

1. Prenatal diagnosis and management of congenital defects of the anterior abdominal wall.

2. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

3. Early prenatal diagnosis of omphalocele constitutes indication for amniocentesis.

4. Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome.

5. The dup(3q) syndrome: report of eight cases and review of the literature.

6. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1.

7. Deletion of the long arm of chromosome 11 [46,XX,del(11)(q24.1--qter)].

8. Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q.

9. Duplication of distal 15q: report of five new cases from two different translocation kindreds.

10. Ring chromosome 11. A case report and review of the literature.

1. Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.

2. 15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies.

3. Prenatal identification of partial 3q duplication syndrome.