Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

Human Genetics

Volumn 121, Issue 6, 2007, Pages 697-709

  Vissers, L E L M ^a   Stankiewicz, P ^b   Yatsenko, S A ^b   Crawford, E ^c   Creswick, H ^d   Proud, V K ^d   Vries, B B A ^a   Pfundt, R ^a   Marcelis, C L M ^a   Zackowski, J ^d   Bi, W ^b   Kessel, A Geurts ^a   Lupski, J R ^b,e   Veltman, J A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Sentara Hospital Cytogenetics Laboratory   (United States)

^d CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; AORTA VALVE DISEASE; AREFLEXIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION 21; CLINICAL FEATURE; CLINODACTYLY; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CRYPTORCHISM; DEMYELINATING NEUROPATHY; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; ECZEMA; ELECTROMYOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC ASSOCIATION; GROWTH RETARDATION; HEART MURMUR; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERTELORISM; INTERSPERSED REPEAT; KARYOTYPING; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MILLER DIEKER SYNDROME; MUSCLE HYPOTONIA; PRECOCIOUS PUBERTY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT STATURE; SMITH MAGENIS SYNDROME; SYNOSTOSIS;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETICS; DNA; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 34250375522     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0359-6     Document Type: Article

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