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Literature DB >> 511169

Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.

H Nakai, Y Yamamoto, Y Kuroki.

Abstract

Mesh：

Year: 1979 PMID： 511169 DOI： 10.1007/bf00283408

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

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11 in total

1. A (17;22) translocation, balanced, 46 chromosomes. Repository identification No. GM-119.

Authors: M N Macintyre; J M Hempel; D B Walden; R C Miller; A E Greene; L L Coriell
Journal: Cytogenet Cell Genet Date: 1975

2. Partial trisomy 22: a recognizable syndrome.

Authors: P Garlinger; S A McGeary; E Magenis
Journal: Clin Genet Date: 1977-07 Impact factor: 4.438

3. 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.

Authors: E Kessel; R A Pfeiffer
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

4. Cat eye syndrome. Partial trisomy 22 due to translocation in the mother.

Authors: M K Bofinger; S W Soukup
Journal: Am J Dis Child Date: 1977-08

5. Letter: Satellite staining of human chromosomes.

Authors: H Eiberg
Journal: Lancet Date: 1974-10-05 Impact factor: 79.321

6. An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.

Authors: D S Borgaonkar; V A McKusick; P A Farber
Journal: J Med Genet Date: 1973-12 Impact factor: 6.318

7. Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Authors: H J Kim; L Y Hsu; L C Goldsmith; L Strauss; K Hirschhorn
Journal: J Med Genet Date: 1977-04 Impact factor: 6.318

8. The problem of trisomy 22. A case report and a discussion of the variant forms.

Authors: H Zellweger; V Ionasescu; J Simpson; L Burmeister
Journal: Clin Pediatr (Phila) Date: 1976-07 Impact factor: 1.168

9. The problem of partial trisomy 22 reconsidered.

Authors: G M Feldman; R S Sparkes
Journal: Hum Genet Date: 1978-11-24 Impact factor: 4.132

10. [Trisomy 11q. Individualization of a new syndrome].

Authors: A Aurias; C Laurent
Journal: Ann Genet Date: 1975-09

11 in total

1. At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

Authors: D Smeets; C van Ravenswaaij; J de Pater; K Gerssen-Schoorl; J Van Hemel; G Janssen; A Smits
Journal: J Med Genet Date: 1997-01 Impact factor: 6.318

2. Regional localization and molecular characterization of a DNA sequence on the long arm of chromosome 22.

Authors: E Göttert; R Metzdorf; U Färber; N Blin
Journal: Hum Genet Date: 1989-03 Impact factor: 4.132

Review 3. Cleidocranial dysplasia: clinical and molecular genetics.

Authors: S Mundlos
Journal: J Med Genet Date: 1999-03 Impact factor: 6.318

4. Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

Authors: A Schinzel; W Schmid; P Auf der Maur; H Moser; K H Degenhardt; M Geisler; A Grubisic
Journal: Hum Genet Date: 1981 Impact factor: 4.132

5. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors: P Jalbert; B Sele; H Jalbert
Journal: Hum Genet Date: 1980 Impact factor: 4.132

6. The 11q;22q translocation: a European collaborative analysis of 43 cases.

Authors: M Fraccaro; J Lindsten; C E Ford; L Iselius
Journal: Hum Genet Date: 1980 Impact factor: 4.132

7. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Authors: Melissa T Carter; Stephanie A St Pierre; Elaine H Zackai; Beverly S Emanuel; Kym M Boycott
Journal: Am J Med Genet A Date: 2009-08 Impact factor: 2.802