Prenatal diagnosis of a familial Xq deletion in a female fetus: A case report

Prenatal Diagnosis

Volumn 21, Issue 1, 2001, Pages 27-30

  Brown, Lucia Y ^a   Alonso, M Lita ^b   Yu, Judy ^c   Warburton, Dorothy ^d   Brown, Stephen ^a  

^a College of Physicians and Surgeons ^*  (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^d Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Deletion; Inactivation; Skewing; X chromosome

Indexed keywords

AMNIOCENTESIS; ARTICLE; BIRTH; CASE REPORT; CHROMOSOME ARM; CHROMOSOME DELETION X; CHROMOSOME XQ; FAMILIAL DISEASE; FEMALE; FETUS; FETUS KARYOTYPING; GENETIC COUNSELING; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ADULT; AMNIOTIC FLUID; DEOXYRIBONUCLEASE HPAII; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE DELETION; HUMANS; KARYOTYPING; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; X CHROMOSOME;

EID: 0035139995     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200101)21:1<27::AID-PD971>3.0.CO;2-R     Document Type: Article

References (13)

1. Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq
2. Clonal X-inactivation analysis of human tumours using the human androgen receptor gene (HUMARA) polymorphism: A non-radioactive and semi-quantitative strategy applicable to fresh and archival tissue
3. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome
4. An analysis of Xq deletions
5. Fertility with deletion Xq25: Report of three cases; possible exceptions for critical region hypothesis
6. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
7. Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion
8. X inactivation in man: A woman with t(Xq- -;12q+)
9. X long-arm deletions. A review of non-mosaic cases studied with banding techniques
10. Deletion (X)(q26.1→q28) in a proband and her mother: Molecular characterization and phenotypic-karyotypic deductions
11. Premature menopause because of an inherited deletion in the long arm of the X-chromosome
12. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern
13. Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome