Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

American Journal of Medical Genetics

Volumn 134 A, Issue 1, 2005, Pages 3-11

  DeScipio, Cheryl ^a   Schneider, Lori ^a   Young, Terri L ^a   Wasserman, Nora ^a   Yaeger, Dinah ^a   Lu, Fengmin ^a   Wheeler, Patricia G ^b   Williams, Marc S ^c   Bason, Lynn ^a   Jukofsky, Lori ^a   Menon, Ammini ^a   Geschwindt, Ryan ^a   Chudley, Albert E ^d   Saraiva, Jorge ^e   Schinzel, Albert A G L ^f   Guichet, Agnes ^g   Dobyns, William E ^h   Toutain, Annick ^g   Spinner, Nancy B ^a   Krantz, Ian D ^a,i  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NEMOURS CHILDREN S HOSPITAL   (United States)

^c GUNDERSEN LUTHERAN MEDICAL CENTER   (United States)

^d UNIVERSITY OF MANITOBA   (Canada)

^e CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^f UNIVERSITY OF ZURICH   (Switzerland)

^g UNIVERSITY HOSPITAL OF TOURS   (France)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

3C syndrome; 6p25 subtelomeric deletion; Anterior chamber; Congenital heart defect; Dandy Walker malformation; FOXC1; FOXF2; FOXQ1; Ritscher Schinzel syndrome

Indexed keywords

DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR FOXF1; TRANSCRIPTION FACTOR FOXQ1; UNCLASSIFIED DRUG;

ANTERIOR EYE CHAMBER; ARTICLE; CEREBELLUM DISEASE; CHILD; CHROMOSOME 6P; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COLOBOMA; CONGENITAL GLAUCOMA; CONGENITAL HYDROCEPHALUS; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DANDY WALKER SYNDROME; DOWNWARD PALPEBRAL SLANT; FAMILY HISTORY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; FORAMINA PARIETALIA; FOREHEAD; FOXC1 GENE; FOXF1 GENE; FOXQ1 GENE; GENE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTELORISM; INFANT; LOW SET EAR; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; OPTIC NERVE DISEASE; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; POSTERIOR EMBRYOTOXON; PRIORITY JOURNAL; PTOSIS; RECESSIVE INHERITANCE; RITSCHER SCHINZEL SYNDROME; SYNDROME; TELOMERE;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 6; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; FAMILY HEALTH; FATAL OUTCOME; FEMALE; FETAL DEATH; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHENOTYPE; SYNDROME; TELOMERE; TRANSLOCATION, GENETIC;

GENETTA;

EID: 20144373058     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30573     Document Type: Article

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