title: Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.
abstract: We present a case of a de novo Xq22.1 chromosomal terminal deletion discovered prenatally by conventional cytogenetics. The pregnancy resulted in the birth of a normal girl. Preferential inactivation of the abnormal X was demonstrated postnatally. Fluorescence in situ hybridization (FISH) demonstrated a terminal Xq deletion spanning Xq22.1 -->qter. An X painting probe ruled out a translocation. The deleted X chromosome was determined to be of paternal origin. The girl is now 4 years old with normal physical and psychomotor development. X chromosomal deletions are infrequent findings in prenatal diagnosis and present a difficult counseling challenge when they occur. Prenatal X-inactivation studies provide an opportunity for more informative genetic counseling when a de novo X chromosome deletion is detected.
authors.affiliation: Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay. rquadr@dedicado.net.uy
authors.forename: Alicia
authors.initials: A
authors.lastname: Vaglio
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Greif
authors.forename: Mery
authors.initials: M
authors.lastname: Bernal
authors.forename: Carlos
authors.initials: C
authors.lastname: Sanguinetti
authors.forename: Búrix
authors.initials: B
authors.lastname: Mechoso
authors.forename: Andrea
authors.initials: A
authors.lastname: Quadrelli
authors.forename: Paula
authors.initials: P
authors.lastname: Tucci
authors.forename: Jeff M
authors.initials: JM
authors.lastname: Milunsky
authors.forename: Xin-Li
authors.initials: XL
authors.lastname: Huang
authors.forename: Sinthia
authors.initials: S
authors.lastname: Pagano
authors.forename: Roberto
authors.initials: R
authors.lastname: Quadrelli
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations; D049951:X Chromosome Inactivation