Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report.
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.
Brown
L Y
LY
Columbia University, College of Physicians and Surgeons, 630 W 9168th Street, New York, NY 10032, USA.
Alonso
M L
ML
Yu
J
J
Warburton
D
D
Brown
S
S
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
D019003:Deoxyribonuclease HpaII