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Molecular and cytogenetic characterization of extra-structurally abnormal chromosomes (ESACs) found prenatally: outcome and follow-up

MARCHINA, Eleonora;PIOVANI, Giovanna;BARLATI, Sergio
2003-01-01
2003
Altre fonti
LS2_6 Molecular genetics, reverse genetics and RNAi
PRENATAL DIAGNOSIS
2-s2.0-0346847519
WOS:000187420000001
Sì, ma tipo non specificato
Inglese
Internazionale
23
959
963
4
14663830
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.
Adult; Chromosome Disorders; Diagnosis; Differential; Female; Genetic Counseling; Genetic Mark; Humans; Infant; Newborn; Maternal Age; Mosaicism; Pregnancy; Pregnancy Trimester; First; High-Risk; Prenatal Diagnosis; ers
http://dx.doi.org/10.1002/pd.734
7
info:eu-repo/semantics/article
262
Marchina, Eleonora; Piovani, Giovanna; Vezzola, L; Bellotti, D; Cerri, V; Groli, C; Barlati, Sergio
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1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/35142
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