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Literature DB >> 640656

De novo trisomy 4pter leads to q21.

Abstract

Clinical and cytogenetic findings in an infant girl with multiple congenital anomalies, principally anophthalmia, are presented. The patient's karyotype was 47,XX,+del(4)(pter leads to q21), the largest partial trisomy of chromosome 4 reported. The possible mechanism of the origin of this abnormality is discussed.

Entities: Disease Species

Mesh：

Year: 1978 PMID： 640656 DOI： 10.1007/BF00273105

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

14 in total

1. Autosomal chromosome disorders and variations.

Authors: O J Miller; W R Breg
Journal: N Engl J Med Date: 1976-03-11 Impact factor: 91.245

2. A case of clinical anophthalmia with an abnormal karyotype.

Authors: W M Donoghue; J Harvey
Journal: J Ment Defic Res Date: 1976-06

3. Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

Authors: A De la Chapelle; M Koivisto; J Schröder
Journal: J Med Genet Date: 1973-12 Impact factor: 6.318

4. [Bilateral anophthalmos. Facial anomalies and t(4;14) translocation].

Authors: F Serville; A Broustet; J Peyresblanques; J Bouineau
Journal: J Genet Hum Date: 1974-12

5. The 4p-syndrome, with a report of two new cases.

Authors: J P Fryns; E Eggermont; H Verresen; H Van den Berghe
Journal: Humangenetik Date: 1973

6. Primary anophthalmos histological and genetic features.

Authors: W G Pearce; S Nigam; J Rootman
Journal: Can J Ophthalmol Date: 1974-01 Impact factor: 1.882

7. Anophthalmia, multiple abnormalities, and unusual karyotype.

Authors: S Masket; F M Galioto; M Best
Journal: Am J Ophthalmol Date: 1970-09 Impact factor: 5.258

8. Chromosomal analysis of two consecutive abortuses in each of 43 women.

Authors: J Boué; A Boué
Journal: Humangenetik Date: 1973-09-20

9. [Deficiency on the short arms of a chromosome No. 4].

Authors: U Wolf; H Reinwein; R Porsch; R Schröter; H Baitsch
Journal: Humangenetik Date: 1965

10. Multiple congenital defects associated with trisomy for long arm of No. 4.

Authors: M Issa; A M Potter; C E Blank
Journal: J Med Genet Date: 1976-08 Impact factor: 6.318

2 in total

1. Trisomy 4p and ocular defects.

Authors: I W Lurie; V A Samochvalov
Journal: Br J Ophthalmol Date: 1994-05 Impact factor: 4.638

Review 2. Clinical manifestations of trisomy 4p syndrome.

Authors: S V Patel; H Dagnew; A J Parekh; E Koenig; R A Conte; M J Macera; R S Verma
Journal: Eur J Pediatr Date: 1995-06 Impact factor: 3.183

2 in total