A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

American Journal of Medical Genetics

Volumn 104, Issue 4, 2001, Pages 282-286

  Pallotta, Rosanna ^a,c   Dalprà, Leda ^b   Miozzo, Monica ^b   Ehresmann, Tamara ^a   Fusilli, Paola ^b  

^a UNIVERSITY OF CHIETI   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c NONE   (Italy)

Author keywords

Antithrombin III; Broad thumb toe; Chromosomal abnormality; Coagulation factor V; Coagulation factor XIII; Interstitial del(1q) syndrome; Psychomotor delay

Indexed keywords

ANTITHROMBIN III; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5;

ANTITHROMBIN III DEFICIENCY; ARNOLD CHIARI MALFORMATION; ARTICLE; BLOOD LEVEL; CASE REPORT; CHROMOSOME 1Q; CLINICAL FEATURE; CLINODACTYLY; FACE MALFORMATION; GROWTH RETARDATION; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE; LIMB MALFORMATION; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

ADOLESCENT; ANTITHROMBIN III; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FOLLOW-UP STUDIES; HAPLOTYPES; HUMANS; INFANT; KARYOTYPING; MALE; SYNDROME;

EID: 0035892811     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10068     Document Type: Article

References (37)

1. Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21→q25) and del (1)(q41→q43)
2. Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25
3. Craniosynostosis, profound growth retardation, unusual facies and multiple minor anomalies associated with intercalary deletion: 46,XX,del(1)(q24-q31)
4. Interstitial deletion in the long arms of chromosome 1: 46, XY, del(1)(pter q22::q25 qter)
5. Délétion intercalaire "de novo" d'un chromosome 1: del(1)(q24→q32)
6. The detection and measurement of factor XIII activity: A review
7. Molecular characterization of a patient with del(1)(q23-q25)
8. Simplified assay for antithrombin III activity using chromogenic peptide substrate. Manual and automated method
9. Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1
10. A case of interstitial lq deletion [46,XY,del (q25q32.1)]
11. Recognition of a new deletion syndrome: del (1q)(q23;q25)
12. New deletion syndrome: 1q43
13. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32)
14. Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21→q25)
15. Proximal deletion of the long arm of chromosome 1: [del(1)(q23-q25)]
16. Interstitial deletion 46,XY,del(1)(q23q25)
17. Mapping the genes for erythrocytic alpha-spectrin 1 (SPTA1) and coagulation factor V (F5)
18. Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1
19. Cytogenetic studies in a selected group of mentally retarded children
20. Antithrombin in infancy and childhood
21. Dermatoglyphics in von Recklinghausen neurofibromatosis
22. La profilassi antitrombotica nel deficit congenito di ATIII
23. Meiotic consequences of an intrachromosomal insertion of chromosome no. 1: A family pedigree
24. Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene
25. Dermatoglyphic findings in chromosome 1 long arm deletions
26. Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence
27. Interstitial deletion of the long arm of chromosome 1, del(1) (q21 q25) in a profoundly retarded 8-year-old girl with multiple anomalies
28. Partial deletion of 1q, following a pericentric inversion, in a boy with multiple minor morphologic anomalies and metal retardation
29. Interstitial deletion of chromosome 1 (q23-q25). Report of a case
30. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q
31. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III
32. A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23→1q25
33. Délétion intercalaire de novo del(1)(q24 q32.1) chez une enfant malformée
34. 3. Ausgabe
35. Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus
36. Confirmation of linkage between antithrombin III and Duffy blood group and assignment of AT3 to 1q22→q25
37. Del (1)(q22-q25) syndrome. Cytogenetics and phenotype