title: Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report.
abstract: X chromosome deletion is an infrequent finding in prenatal diagnosis and presents a difficult counseling challenge when it occurs. We present a case of a familial X chromosome long arm deletion discovered in a routine amniocentesis and subsequently in the mother. The pregnancy resulted in the birth of a normal girl, and X chromosome inactivation skewing was demonstrated in both mother and daughter. Xq deletion phenotypes and counseling issues are reviewed.
authors.affiliation: Columbia University, College of Physicians and Surgeons, 630 W 9168th Street, New York, NY 10032, USA.
authors.forename: L Y
authors.initials: LY
authors.lastname: Brown
authors.forename: M L
authors.initials: ML
authors.lastname: Alonso
authors.forename: J
authors.initials: J
authors.lastname: Yu
authors.forename: D
authors.initials: D
authors.lastname: Warburton
authors.forename: S
authors.initials: S
authors.lastname: Brown
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry; D019003:Deoxyribonuclease HpaII / Q000378:metabolism; D004303:Dosage Compensation, Genetic; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D019003:Deoxyribonuclease HpaII