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Literature DB >> 7390476

Full trisomy 7 and Potter syndrome.

Abstract

A patient with typical Potter's syndrome and full trisomy 7 is described. All previous reports on chromosome 7 abnormalities, whether monosomic or trisomic, p or q, are reviewed and discussed, establishing two 7q trisomy syndromes: 7q22 ts leads 7q31 and 7q22, q31 leads to 7qter. Some implications of the finding of full trisomy 7 in a case of Potter's syndrome are discussed.

Entities: Disease Species

Mesh：

Year: 1980 PMID： 7390476 DOI： 10.1007/bf00279043

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

27 in total

1. [Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case].

Authors: C Turleau; A Rossier; G de Montis; M Roubin; F Chavin-Colin; J de Grouchy
Journal: Ann Genet Date: 1976-03

2. Nuclear sex and genital malformation in 48 cases of renal agenesis, with especial reference to nonspecific female pseudoheramphroditism.

Authors: P J CARPENTIER; E L POTTER
Journal: Am J Obstet Gynecol Date: 1959-08 Impact factor: 8.661

Review 3. WATER METABOLISM OF THE FETUS.

Authors: A E SEEDS
Journal: Am J Obstet Gynecol Date: 1965-07-01 Impact factor: 8.661

4. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

Authors: G Higginson; D D Weaver; R E Magenis; G H Prescott; C Haag; D J Hepburn
Journal: Clin Genet Date: 1976-11 Impact factor: 4.438

5. Partial trisomy of 7q resulting from a familial translocation.

Authors: E Grace; G R Sutherland; G D Stark; A D Bain
Journal: Ann Genet Date: 1973-03

6. Partial trisomy 7q.

Authors: W Vogel; J W Siebers; H Reinwein
Journal: Ann Genet Date: 1973-12

7. Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.

Authors: M H Shokeir; K L Ying; P Pabello
Journal: Clin Genet Date: 1973 Impact factor: 4.438

8. Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

Authors: B Biederman; P Bowen
Journal: Hum Genet Date: 1978-02-23 Impact factor: 4.132

9. Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.

Authors: J de Grouchy; C Turleau
Journal: Humangenetik Date: 1974

10. Interstitial deletion of chromosome 7 detected in three unrelated patients.

Authors: M Seabright; G M Lewis
Journal: Hum Genet Date: 1978-06-09 Impact factor: 4.132

10 in total

1. First-trimester ultrasonography revealed a gestational sac featuring cystic spaces and no visible embryo: a case of trisomy 7.

Authors: Aysel Derbent; Zerrin Yılmaz; Serap Simavlı; Ozge Ozer; Nilgün Öztürk Turhan
Journal: J Turk Ger Gynecol Assoc Date: 2010-03-01

Full trisomy 7 and Potter syndrome.

1. [Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case].

2. Nuclear sex and genital malformation in 48 cases of renal agenesis, with especial reference to nonspecific female pseudoheramphroditism.

Review 3. WATER METABOLISM OF THE FETUS.

4. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

5. Partial trisomy of 7q resulting from a familial translocation.

6. Partial trisomy 7q.

7. Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.

8. Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

9. Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.

10. Interstitial deletion of chromosome 7 detected in three unrelated patients.

1. First-trimester ultrasonography revealed a gestational sac featuring cystic spaces and no visible embryo: a case of trisomy 7.

2. Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).

Review 3. Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

4. Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy.

5. De novo duplication of the 7q11 leads to q22 region.

6. Potter's syndrome and chromosomal anomalies.

7. Partial trisomy for the long arm of chromosome 7. Case report and review.

8. Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

9. Triplex gene dosage effect of beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q.

10. Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.