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 Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

Literature DB >> 964994

Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

S R Young, D M Donovan, H A Greer, K Burch, D C Potter.

Abstract

A 3-year-old child with tertiary trisomy (14 (+14q--), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16)(q11;q24) is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.

Entities: Species

Mesh：

Year: 1976 PMID： 964994 DOI： 10.1007/BF00286862

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

10 in total

1. [T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter].

Authors: C Laurent; B Dutrillaux; M C Biemont; J Genoud; M Bethenod
Journal: Ann Genet Date: 1973-12

2. Tertiary partial 14 trisomy 47, XX, plus 14q minus.

Authors: J P Fryns; J J Cassiman; H Van den Berghe
Journal: Humangenetik Date: 1974

3. A rapid banding technique for human chromosomes.

Authors: M Seabright
Journal: Lancet Date: 1971-10-30 Impact factor: 79.321

4. New technique for distinguishing between human chromosomes.

Authors: A T Sumner; H J Evans; R A Buckland
Journal: Nat New Biol Date: 1971-07-07

5. Identification of human chromosomes by DNA-binding fluorescent agents.

Authors: T Caspersson; L Zech; C Johansson; E J Modest
Journal: Chromosoma Date: 1970 Impact factor: 4.316

6. Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).

Authors: R A Pfeiffer; K Büttinghaus; H Struck
Journal: Humangenetik Date: 1973

7. Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-).

Authors: J A Reiss; H E Wyandt; R E Magenis; E W Lovrien; F Hecht
Journal: J Med Genet Date: 1972-09 Impact factor: 6.318

8. A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

Authors: E M Short; G B Solitare; W R Breg
Journal: J Med Genet Date: 1972-09 Impact factor: 6.318

9. Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.

Authors: P W Allderdice; O J Miller; D A Miller; W R Breg; E Gendel; C Zelson
Journal: Humangenetik Date: 1971

10. [Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)].

Authors: J D Murken; M Bauchinger; D Palitzsch; H Pfeifer; J Suschke; H Haendle
Journal: Humangenetik Date: 1970

10 in total

13 in total

1. Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies.

Authors: M Frecker; L Dallaire; S R Young; G C Chen; N E Simpson
Journal: Hum Genet Date: 1978-12-18 Impact factor: 4.132

2. Partial trisomy 14q due to familial t(14q-,11q+) translocation.

Authors: J P Fryns; M Van Eygen; W Tanghe; H Van Den Berghe
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

3. Partial trisomy of the distal segment 14q.

Authors: Y Nakamura; K Sakai; S Sakuma; E Sato; M Maruyama; T Hashimoto; S Fukuda; Y Nishimi; Y Nakagome; Y Nakahori
Journal: Hum Genet Date: 1990-05 Impact factor: 4.132

4. Tertiary trisomy 14q--, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22).

Authors: G Kovacs; C Mihai
Journal: Hum Genet Date: 1979-06-19 Impact factor: 4.132

Review 5. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors: P Jalbert; B Sele
Journal: J Med Genet Date: 1979-12 Impact factor: 6.318

Review 6. Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

Authors: G Valkova; M Stefanova
Journal: J Med Genet Date: 1993-01 Impact factor: 6.318