Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

Clinical Dysmorphology

Volumn 14, Issue 3, 2005, Pages 127-132

  Tabolacci, Elisabetta ^a   Zollino, Marcella ^a   Lecce, Rosetta ^a   Sangiorgi, Eugenio ^a   Gurrieri, Fiorella ^a   Leuzzi, Vincenzo ^b   Opitz, John M ^c   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

22q13 deletion syndrome; Clark Baraitser syndrome; Cryptic chromosome rearrangements; Multiple congenital anomalies syndrome; X linked mental retardation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; BRAZIL; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q13; CHROMOSOME MOSAICISM; CLARK BARAITSER SYNDROME; CLINICAL FEATURE; CYTOGENETICS; ELECTROENCEPHALOGRAM; FACE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL CORTEX; HUMAN; HUMAN CELL; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SIBLING;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIAGNOSIS, DIFFERENTIAL; DNA; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FACE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MENTAL RETARDATION, X-LINKED; OBESITY; SIBLINGS; SKULL; SYNDROME;

EID: 21244446647     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200507000-00004     Document Type: Article

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