Molecular and cytogenetic characterization of extra-structurally abnormal chromosomes (ESACs) found prenatally: outcome and follow-up.
A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22.1 region of the Y chromosome. PCR analysis of genes and STS localized on the Y chromosome excluded the Yp presence specifically of the SRY gene, and most of the euchromatic region of Yq. After extensive genetic counselling and considering both laboratory and second-level ultrasound data, the couple decided to continue the pregnancy. At 37.4 weeks of gestational age, a girl weighing 2750 g was born with an Apgar score of 9/10. A blood sample taken from the umbilical cord showed three cellular lines: mos47,XX, +mar1 ish.der (Y)(wcpY+) [21%]/48,XX, +mar1 ish.der (Y)(wcpY+), +mar2 ish.der (Y)(wcpY+) [41%]/46,XX [38%]. One year after birth, the baby was developing normally and had normal psychomotorial activity.
Marchina
E
E
Cytogenetics and Molecular Genetics Laboratory, Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Italy.
Piovani
G
G
Vezzola
L
L
Bellotti
D
D
Cerri
V
V
Groli
C
C
Barlati
S
S
D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008423:Maternal Age; D009030:Mosaicism / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis
D005819:Genetic Markers