Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion

Prenatal Diagnosis

Volumn 26, Issue 13, 2006, Pages 1212-1215

  McClarren, Jennifer ^a   Donnenfeld, Alan E ^a   Ravnan, J Britt ^b  

^a Genzyme Genetics   (United States)

^b GENZYME GENETICS   (United States)

Author keywords

DiGeorge syndrome; Hypoplastic thymus; Paracentric inversion; Ring 22 chromosome; Truncus arteriosus

Indexed keywords

CELL CYCLE PROTEIN; CEREBROSIDE SULFATASE; PROTEIN TUPLE1; UNCLASSIFIED DRUG;

ADULT; ARTERIAL TRUNK; ARTICLE; AUTOPSY; BRAIN DISEASE; CASE REPORT; CHROMOSOME 11; CHROMOSOME 22; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; ECHOGRAPHY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FETUS; FETUS WEIGHT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GESTATION PERIOD; HEART DISEASE; HUMAN; HYGROMA; HYPERTELORISM; HYPOPLASIA; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 46,XX; KIDNEY DYSPLASIA; LABORATORY TEST; PARACENTRIC CHROMOSOME INVERSION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCOLIOSIS; UMBILICAL MALFORMATION;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; ADOLESCENT; CHORIONIC VILLI SAMPLING; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FATAL OUTCOME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; LYMPHANGIOMA, CYSTIC; PREGNANCY; PREGNANCY COMPLICATIONS; RING CHROMOSOMES; SPECTRAL KARYOTYPING; THYMUS HYPERPLASIA; TRUNCUS ARTERIOSUS, PERSISTENT; ULTRASONOGRAPHY, PRENATAL;

EID: 33845937444     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1590     Document Type: Article

References (10)

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