Breakpoint analysis of Turner patients with partial Xp deletions: Implications for the lymphoedema gene location

Journal of Medical Genetics

Volumn 38, Issue 9, 2001, Pages 591-598

  Boucher, C A ^a   Sargent, C A ^a   Ogata, T ^b   Affara, N A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Lymphoedema; Turner syndrome; Xp11.4

Indexed keywords

ARTICLE; CHROMOSOME DELETION X; CLINICAL ARTICLE; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; KARYOTYPE; LYMPHEDEMA; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; TURNER SYNDROME;

CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME MAPPING; DATABASES, NUCLEIC ACID; DOSAGE COMPENSATION, GENETIC; EDEMA; FEMALE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MICROSATELLITE REPEATS; PHENOTYPE; SEQUENCE TAGGED SITES; TRANSLOCATION, GENETIC; TURNER SYNDROME; X CHROMOSOME;

EID: 0034840008     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. A syndrome of infantilism, congenital webbed neck and cubitus valgus
2. The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
3. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
4. The Turner syndrome-associated neurocognitive phenotype maps to distal Xp
5. Genotype-phenotype correlations in individuals with disorders of sex determination and development including Turner's syndrome
6. The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences
7. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata
8. Two male patients with ring Y: Definition of an interval in Yq contributing to Turner syndrome
9. Chromosomal localisation of a gene(s) for Turner stigmata on Yp
10. PHOG, a candidate gene for involvement in the short stature of Turner syndrome
11. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
12. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
13. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
14. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
15. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome
16. The human Y chromosome: A 43-interval map based on naturally occurring deletions
17. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2
18. A study of females with deletions of the short arm of the X chromosome
19. Random X inactivation resulting in mosaic nullisomy of region Xp21.1-p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease
20. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1
21. Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome
22. Del (X) (p21.2) in a mother and two daughters with variable ovarian function
23. Del(X) (p21.1) in a mother and two daughters: Genotype-phenotype correlation of Turner features
24. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
25. A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin
26. Functional coherence of the human Y chromosome
27. A first-generation X-inactivation profile of the human X chromosome
28. Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain
29. Vascular endothelial growth factor D (VEGF-D) is a ligand for the tyrosine kinases VEGF receptor 2 (Flk1) and VEGF receptor 3 (Flt4)
30. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
31. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata