Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 [Trisomy 4p. Three new observations (author's transl)].

Literature DB >> 1193607

[Trisomy 4p. Three new observations (author's transl)].

F Giraud, J F Mattei, M G Mattei, S Ayme, R Bernard.

Abstract

Three new observations of trisomy 4p are reported. Two are due to a maternal translocation t(4;15). The third is due to a "mirror" duplication, it is the first case of trisomy 4p without balanced parental rearrangement. The very characteristic phenotype is compared to that of 13 other patients already reported in the literature.

Entities: Species

Mesh：

Year: 1975 PMID： 1193607 DOI： 10.1007/bf00291941

Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348

17 in total

1. A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES.

Authors: K H GUSTAVSON; S C FINLEY; W H FINLEY; B JALLING
Journal: Acta Paediatr Date: 1964-03 Impact factor: 2.299

2. A case of trisomy of the short arms of chromosome no. 4 with translocation t(4p 21p; 4q 21q) in the mother.

Authors: M Furbetta; G Rosi; P Cossu; A Cao
Journal: Humangenetik Date: 1975

3. [Pericentric inversion of chromosome 4 : inv (4) (p13, q35) and trisomy of the short branch of chromosome 4 due to recombination aneusomy].

Authors: B Dallapiccola; L Capra; G Preto; M Covic; B Dutrillaux
Journal: Ann Genet Date: 1974-06

4. [Trisomy 4p due to recombination aneusomy of an inversion 4 (p 14, q 35)].

Authors: M O Rethoré; B Dutrillaux; J C Job; J Lejeune
Journal: Ann Genet Date: 1974-06

5. [Familial translocation t(4;22) (p11;p12) and trisomy 4p in 2 sisters].

Authors: G Giovannelli; A Forabosco; B Dutrillaux
Journal: Ann Genet Date: 1974-06

6. Multiple congenital defects associated with trisomy for the short arm of chromosome 4.

Authors: L Owen; B Martin; C E Blank; F Harris
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

7. [A new technic of analysis of the human karyotype].

Authors: B Dutrillaux; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1971-05-17

8. [Partial trisomy of the short arm of chromosome 4 due to translocation t(4p-22p+)].

Authors: F Metz; L Bier; R A Pfeiffer
Journal: Humangenetik Date: 1973-05-25

9. Paternal transmission of a B-D translocation, t(4p-; 14p + or 15p+), resulting in a partial 4p trisomy.

Authors: W L Gouw; G J Anders; L P ten Kate; C J de Groot
Journal: Humangenetik Date: 1972

10. Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man.

Authors: T Caspersson; M Hultén; J Lindsten; L Zech
Journal: Ann Genet Date: 1971-06

9 in total

1. Trisomy 4p due to a paternal t(4p-;16p+) translocation.

Authors: T Bauknecht; F Betteken; W Vogel
Journal: Hum Genet Date: 1976-10-28 Impact factor: 4.132

2. Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family.

Authors: M Andrle; A Erlach; W Killian; A Rett
Journal: Hum Genet Date: 1976-07-27 Impact factor: 4.132

3. Tandem duplication (5q13 to 22) in a mentally deficient girl.

Authors: E Kessel; R A Pfeiffer
Journal: Hum Genet Date: 1979-11 Impact factor: 4.132

Review 4. Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors: O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal: Hum Genet Date: 1994-02 Impact factor: 4.132

Review 9. Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

Authors: D P Duckett; S H Roberts
Journal: Hum Genet Date: 1981 Impact factor: 4.132