Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1336-1351

  Burkardt, Deepika D'Cunha ^a   Rosenfeld, Jill A ^b   Helgeson, Maria L ^c   Angle, Brad ^c   Banks, Valerie ^d   Smith, Wendy E ^d   Gripp, Karen W ^e   Moline, Jessica ^f   Moran, Rocio T ^f   Niyazov, Dmitriy M ^g   Stevens, Cathy A ^h   Zackai, Elaine ⁱ   Lebel, Robert Roger ^j   Ashley, Douglas G ^k   Kramer, Nancy ^a   Lachman, Ralph S ^a   Graham, John M ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b PerkinElmer   (United States)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

^d MAINE MEDICAL CENTER   (United States)

^e NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^f LERNER RESEARCH INSTITUTE   (United States)

^g OCHSNER CLINIC FOUNDATION   (United States)

^h Thompson Children's Hospital   (United States)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^j SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^k Lake Forest Pediatric Associates   (United States)

more..

Author keywords

Chromosome deletion 1q24 q25; Cognitive deficiency; Dysmorphic features; Intrauterine growth deficiency; Microcephaly; Proportionate short stature; Speech deficiency

Indexed keywords

CENTROMERE PROTEIN L; DNA; DYNAMIN III; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BONE AGE; BONE MATURATION; BONE RADIOGRAPHY; BRACHYDACTYLY; BRAIN DISEASE; CENPL GENE; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 1Q; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINODACTYLY; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DNA MICROARRAY; DNM3 GENE; FACE DYSMORPHIA; FEMALE; FOOT MALFORMATION; GENE; GENE DELETION; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; INFANT; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MICROGNATHIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SHORT NOSE; SPINAL CORD DISEASE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; FACE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MENTAL RETARDATION; MICROARRAY ANALYSIS; PHENOTYPE; SYNDROME; YOUNG ADULT;

EID: 79956199016     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34049     Document Type: Article

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