A non-sex chromosome marker in a patient with an atypical Ullrich - Turner phenotype and mosaicism of 46,X,mar/46,XX

Clinical Genetics

Volumn 60, Issue 1, 2001, Pages 73-76

  Gray, B A ^a,c   Bent Williams, A ^a   Wolff, D J ^b   Zori, R T ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c UNIVERSITY OF FLORIDA   (United States)

Author keywords

Autistic disorder; Chromosomes, human, pair 20; Cytogenetics; Fluorescence in situ hybridization; Marker chromosome; Mosaicism; Ullrich turner syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 20; CHROMOSOME ANALYSIS; CHROMOSOME IDENTIFICATION; CHROMOSOME MARKER; CLINICAL EXAMINATION; CLINICAL FEATURE; CYTOGENETICS; FEMALE; HUMAN; KARYOTYPE 46,XX; KARYOTYPING; MARKER CHROMOSOME; PHENOTYPE; PRIORITY JOURNAL; SEX CHROMOSOME; SEX CHROMOSOME MOSAICISM; TURNER SYNDROME; X CHROMOSOME; Y CHROMOSOME;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOSAICISM; TURNER SYNDROME; X CHROMOSOME;

EID: 0034925097     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600112.x     Document Type: Article

References (15)

1. 45,X/46,X, + r(X) can have a distinct phenotype different from Ullrich-Turner syndrome
2. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
3. Risk of malignancy in bilateral streak gonads: The role of the Y chromosome
4. Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature
5. Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
6. Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome
7. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation
8. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X, + mar: Additional support for the loss of the X-inactivation center hypothesis
9. X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence
10. Lack of X inactivation associated with maternal X isodisomy: Evidence for a counting mechanism prior to X inactivation during human embryogenesis
11. Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome
12. Identification of supernumerary der(20) chromosomes by FISH in three patients
13. FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases
14. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature
15. Maternal UPD 20 in a hyperactive child with severe growth retardation