Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature

Clinical Dysmorphology

Volumn 21, Issue 2, 2012, Pages 101-105

  Manolakos, Emmanouil ^a,i   Sifakis, Stavros ^e   Sotiriou, Sotirios ^f   Peitsidis, Panagiotis ^b   Eleftheriades, Makarios ^c   Mersinias, Vassilis ^a   Liehr, Thomas ^h   Thomaidis, Loretta ^c   Kitsos, George ^d   Papoulidis, Ioannis ^a   Petersen, Michael B ^g   Orru, Sandro ⁱ  

^a 'Helena Venizelou' Hospital   (Greece)

^b HELENA VENIZELOU HOSPITAL   (Greece)

^c UNIVERSITY OF ATHENS   (Greece)

^d UNIVERSITY HOSPITAL OF IOANNINA   (Greece)

^e UNIVERSITY HOSPITAL OF HERAKLION   (Greece)

^f UNIVERSITY OF THESSALY   (Greece)

^g AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^h FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

ⁱ UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; AMNION CELL; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; DOWN SYNDROME; EMBRYO; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC RISK; HUMAN; HUMAN CELL; KARYOTYPE; MEDICAL LITERATURE; NUCHAL TRANSLUCENCY MEASUREMENT; PARTIAL TRISOMY; PARTIAL TRISOMY 1Q; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRENATAL SCREENING; PRIORITY JOURNAL;

ADULT; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 1; CYTOGENETIC ANALYSIS; FEMALE; FETAL DISEASES; FETUS; HUMANS; HYDROPS FETALIS; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 84858202101     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834e9279     Document Type: Article

References (18)

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