Prenatal diagnosis of fragile X and Turner mosaicism in a 12-week fetus [4]

Prenatal Diagnosis

Volumn 20, Issue 10, 2000, Pages 854-855

  Wilkin, Helen ^a   Tuohy, Jeremy ^a   Theewis, Wilhelmina ^a  

^a WELLINGTON HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; DNA METHYLATION; FETUS; FIRST TRIMESTER PREGNANCY; FRAGILE X SYNDROME; HUMAN; KARYOTYPE; LETTER; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TURNER SYNDROME; X CHROMOSOME;

ADULT; BLOTTING, SOUTHERN; CHORIONIC VILLI SAMPLING; FEMALE; FRAGILE X SYNDROME; HUMANS; MALE; MOSAICISM; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; TURNER SYNDROME;

EID: 0033751977     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200010)20:10<854::AID-PD928>3.0.CO;2-1     Document Type: Letter

References (6)

1. Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development
2. The concurrence of Klinefelter syndrome and fragile X syndrome
3. Prenatal diagnosis and tissue culture
4. Fragile X syndrome and monosomy X mosaicism
5. Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect
6. Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate female carrier for fragile X syndrome