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Literature DB >> 939561

Partial trisomy 15q1.

Abstract

A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial trisomy 15q different phenotypes are due to the second chromosome involved in interchange is supported by the observation of a tertiary trisomy in 2 sibs. It resulted from a balanced reciprocal translocation in the mother t(8q+15q--) and caused an unusual malformation syndrome (mental deficiency, cleft lip and palate, funnel chest, hypospadias).

Entities: Disease Species

Mesh：

Year: 1976 PMID： 939561 DOI： 10.1007/bf00447290

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

15 in total

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

Authors: T C Hsu; S Pathak; T R Chen
Journal: Cytogenet Cell Genet Date: 1975

2. An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

Authors: M M Cohen; A Ornoy; A Rosenmann; G Kohn
Journal: Ann Genet Date: 1975-06

3. A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange.

Authors: D L Bannister; E Engel
Journal: J Pediatr Date: 1975-06 Impact factor: 4.406

4. Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

Authors: O Sánchez; J J Yunis
Journal: Humangenetik Date: 1974

5. A case of partial trisomy 15.

Authors: E J Watson; R R Gordon
Journal: J Med Genet Date: 1974-12 Impact factor: 6.318

6. Banding analysis of abnormal karyotypes in spontaneous abortion.

Authors: T Kajii; K Oama; N Niikawa; A Ferrier; S Avirachan
Journal: Am J Hum Genet Date: 1973-09 Impact factor: 11.025

7. Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.

Authors: B F Crandall; H M Muller; H N Bass
Journal: Am J Ment Defic Date: 1973-03

8. Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8 plus (8q2) in a severely retarded and malformed girl.

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

7. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors: A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7 in total

Partial trisomy 15q1.

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

2. An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

3. A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange.

4. Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

5. A case of partial trisomy 15.

6. Banding analysis of abnormal karyotypes in spontaneous abortion.

7. Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.

8. Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8 plus (8q2) in a severely retarded and malformed girl.

9. Banding identification of partial trisomy 15 and of 8/21 translocation.

10. Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome.

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

2. De novo partial trisomy 15q (proximal type).

3. Parental origin of de novo chromosome rearrangements.

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

5. Cytogenetic and clinical studies in five cases of inv dup(15).

Review 6. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

7. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.