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Literature DB >> 511138

Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

J P Fryns, P De Waele, H Van Den Berghe.

Abstract

This report describes a moderately mentally retarded boy in whom there is interstitial deletion of the short arm of chromosome 2 (del(2)(p11p21)) associated with the presence in all cells of a small acentric fragment.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 511138 DOI： 10.1007/bf00287165

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

7 in total

1. [A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

Authors: S Warter; C Lausecker; A Pennerath
Journal: Hum Genet Date: 1976-05-19 Impact factor: 4.132

2. Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification no. GM-1138.

Authors: E Zackai; B Emanuel; W J Mellman; M M Aronson; B Bozarth; A E Greene; L L Coriell
Journal: Cytogenet Cell Genet Date: 1977

3. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.

Authors: J P Fryns; K De Boeck; J Jaeken; H van den Berghe
Journal: Hum Genet Date: 1978-08-31 Impact factor: 4.132

4. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

Authors: J P Fryns; B Van Bosstraeten; H Malbrain; H Van den Berghe
Journal: Hum Genet Date: 1977-11-10 Impact factor: 4.132

5. Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

Authors: J A Sills; K E Buckton; J A Raeburn
Journal: J Med Genet Date: 1976-12 Impact factor: 6.318

6. 46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies.

Authors: G R Sutherland; R F Carter
Journal: Ann Genet Date: 1978-09

7. Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

Authors: J German; R S Chaganti
Journal: Science Date: 1973-12-21 Impact factor: 47.728

7 in total

4 in total

Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

1. [A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

2. Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification no. GM-1138.

3. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.

4. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

5. Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

6. 46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies.

7. Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

1. Abnormal chromosome complement resulting from a familial inversion of chromosome 2.

2. Partial 2p deletion in a girl with a complex chromosome rearrangement involving chromosomes 2, 6, 11, and 21.

3. Interstitial deletion (2)(p13p15).

4. De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.