Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1468-1475

  Van Zutven, Laura J C M ^a   Van Bever, Yolande ^a   Van Nieuwland, Carolien C M ^a   Huijbregts, Gido C M ^a   Van Opstal, Diane ^a   Von Bergh, Anne R M ^a   Corel, Linda J A ^b   Tibboel, Dick ^b   Wouters, Cokkie H ^a   Poddighe, Pino J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Interstitial 11q deletion; Jacobsen syndrome; Review; SNP array

Indexed keywords

BOSENTAN; NITRIC OXIDE; PROSTACYCLIN; SILDENAFIL;

AMNIOCENTESIS; AMNIOTIC FLUID CELL; ANURIA; AORTA COARCTATION; APGAR SCORE; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BALLOON DILATATION; BIRTH WEIGHT; BLEEDING; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME INSERTION; CHROMOSOME TRANSLOCATION; CLONE; EAR DYSPLASIA; ECHOCARDIOGRAPHY; ECHOGRAPHY; EPICANTHUS; EXTRACORPOREAL OXYGENATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HEART CATHETERIZATION; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; HUMAN CELL; HYDRAMNIOS; HYPERBILIRUBINEMIA; HYPERTELORISM; HYPOPLASTIC LEFT HEART SYNDROME; HYPOVOLEMIC SHOCK; INTERPHASE; JACOBSEN SYNDROME; KARYOTYPE 46,XX; KARYOTYPING; KIDNEY DYSPLASIA; LUNG VASCULAR RESISTANCE; MALE; MOUTH DISEASE; NEWBORN; NOSE MALFORMATION; PARENT; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PHILTRUM; PREGNANCY; PRENATAL DIAGNOSIS; PRESSURE GRADIENT; PRIORITY JOURNAL; PULMONARY HYPERTENSION; PULSE RATE; TELOMERE; THROMBOCYTOPENIA; UPWARD PALPEBRAL SLANT; VENOUS RETURN; WEBBED NECK;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 4; FAMILY; FEMALE; HUMANS; INFANT, NEWBORN; INHERITANCE PATTERNS; JACOBSEN DISTAL 11Q DELETION SYNDROME; MALE; MOTHERS; TRANSLOCATION, GENETIC;

EID: 67649888056     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32714     Document Type: Article

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