PMID- 14663830
OWN - NLM
STAT- MEDLINE
DCOM- 20040123
LR  - 20061115
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 23
IP  - 12
DP  - 2003 Dec 15
TI  - Molecular and cytogenetic characterization of extra-structurally abnormal 
      chromosomes (ESACs) found prenatally: outcome and follow-up.
PG  - 959-63
AB  - 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.
CI  - Copyright 2003 John Wiley & Sons, Ltd.
FAU - Marchina, E
AU  - Marchina E
AD  - Cytogenetics and Molecular Genetics Laboratory, Division of Biology and Genetics, 
      Department of Biomedical Sciences and Biotechnology, University of Brescia, 
      Italy.
FAU - Piovani, G
AU  - Piovani G
FAU - Vezzola, L
AU  - Vezzola L
FAU - Bellotti, D
AU  - Bellotti D
FAU - Cerri, V
AU  - Cerri V
FAU - Groli, C
AU  - Groli C
FAU - Barlati, S
AU  - Barlati S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Genetic Counseling
MH  - Genetic Markers
MH  - Humans
MH  - Infant, Newborn
MH  - Maternal Age
MH  - Mosaicism/*diagnosis/genetics
MH  - Pregnancy
MH  - Pregnancy Trimester, First
MH  - Pregnancy, High-Risk
MH  - *Prenatal Diagnosis
EDAT- 2003/12/10 05:00
MHDA- 2004/01/24 05:00
CRDT- 2003/12/10 05:00
PHST- 2003/12/10 05:00 [pubmed]
PHST- 2004/01/24 05:00 [medline]
PHST- 2003/12/10 05:00 [entrez]
AID - 10.1002/pd.734 [doi]
PST - ppublish
SO  - Prenat Diagn. 2003 Dec 15;23(12):959-63. doi: 10.1002/pd.734.