Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?

American Journal of Medical Genetics, Part A

Volumn 146, Issue 17, 2008, Pages 2284-2290

  Mulatinho, Milene ^a,b   Llerena, Juan ^a,c   Leren, Trond P ^d   Rao, P Nagesh ^b   Quintero Rivera, Fabiola ^b,e  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c INSTITUTO OSWALDO CRUZ   (Brazil)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e NONE   (United States)

Author keywords

Global developmental delay; Low serum cholesterol; Mental retardation; Oligonucleotide aCGH; Submicroscopic chromosome deletion 1p32

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; KEXIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; PHOSPHATIDATE PHOSPHATASE; SERINE PROTEINASE; STEROL CARRIER PROTEIN 2; SUBTILISIN; THIOL ESTER HYDROLASE;

ADULT; ARTICLE; CASE REPORT; CATARACT; CHOLESTEROL METABOLISM; CHROMOSOME 1P; CHROMOSOME DELETION; CHROMOSOME DELETION 1P; CLEFT LIP PALATE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FATTY ACID OXIDATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUNCTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTELORISM; HYPOCHOLESTEROLEMIA; KARYOTYPING; LOW SET EAR; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; PRIORITY JOURNAL; TELECANTHUS;

ABNORMALITIES, MULTIPLE; ADULT; CHILD, PRESCHOOL; CHOLESTEROL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SERINE ENDOPEPTIDASES; SYNDROME;

EID: 51449087745     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32454     Document Type: Article

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