Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.
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.
Vaglio
Alicia
A
Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay. rquadr@dedicado.net.uy
Greif
Gonzalo
G
Bernal
Mery
M
Sanguinetti
Carlos
C
Mechoso
Búrix
B
Quadrelli
Andrea
A
Tucci
Paula
P
Milunsky
Jeff M
JM
Huang
Xin-Li
XL
Pagano
Sinthia
S
Quadrelli
Roberto
R
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