A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: Case report and review

Clinical Dysmorphology

Volumn 16, Issue 4, 2007, Pages 231-239

  Courtens, Winnie ^a   Wauters, Jan ^b   Wojciechowski, Marek ^b   Reyniers, Edwin ^b   Scheers, Stefan ^b   Van Luijk, Rob ^b   Rooms, Liesbeth ^b   Kooy, Frank ^b   Wuyts, Wim ^b  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Jacobsen syndrome; Multiple congenital anomalies mental retardation; Subtelomeric monosomy 11q; Subtelomeric trisomy 20q

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GROWTH RETARDATION; HEART DISEASE; HUMAN; HYDRONEPHROSIS; JACOBSEN SYNDROME; MONOSOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY TRACT INFECTION; TELOMERE; TRISOMY;

ABNORMALITIES, MULTIPLE; ADULT; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MONOSOMY; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SYNDROME; TELOMERE; TRISOMY;

EID: 34548389873     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3282742303     Document Type: Article

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