Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization

Prenatal Diagnosis

Volumn 17, Issue 2, 1997, Pages 173-179

  Van Zelderen Bhola, S L ^a,e   Breslau Siderius, E J ^b   Beverstock, G C ^a   Stolte Dijkstra, I ^c   De Vries, L S ^d   Stoutenbeek, Ph ^b   De Pater, J M ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e LEIDEN UNIVERSITY   (Netherlands)

Author keywords

Cryptic translocation; Echoscopic anomalies; Fluorescence in situ hybridization; Miller Dieker syndrome

Indexed keywords

ADULT; AGYRIA; ARTICLE; CASE REPORT; CHROMOSOME 17; CHROMOSOME ANALYSIS; COSMID; ECHOGRAPHY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; GESTATIONAL AGE; HUMAN; HYDRAMNIOS; KIDNEY ANOMALY; MALE; OCCIPITAL LOBE; PARTIAL TRISOMY; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ULTRASOUND;

ABNORMALITIES, MULTIPLE; BRAIN; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GENE DELETION; GESTATIONAL AGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KIDNEY; MALE; OCCIPITAL LOBE; PEDIGREE; PREGNANCY; SYNDROME; TRANSLOCATION, GENETIC; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

ACRONICTA LEPORINA;

EID: 0031044564     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199702)17:2<173::AID-PD30>3.0.CO;2-V     Document Type: Article

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