Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

European Journal of Medical Genetics

Volumn 54, Issue 4, 2011, Pages

  Jehee, Fernanda Sarquis ^a   Takamori, Jean Tetsuo ^a   Vasconcelos Medeiros, Paula F ^b   Pordeus, Ana Carolina B ^b   Latini, Flavia Roche M ^c,d   Bertola, Débora Romeo ^a   Kim, Chong Ae ^a   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF CAMPINA GRANDE   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d Associação Beneficente de Coleta de Sangue São Paulo   (Brazil)

Author keywords

Array CGH; Chromosomal abnormalities; Congenital anomalies; Mental retardation; MLPA; Submicroscopic imbalances

Indexed keywords

ADULT; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q13; CHROMOSOME DISORDER; DEVELOPING COUNTRY; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; KARYOTYPE; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PROSPECTIVE STUDY; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM; SOTOS SYNDROME; WHOLE GENOME ARRAY SCREENING; WILLIAMS BEUREN SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DEVELOPING COUNTRIES; FEMALE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; MODELS, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; REAGENT KITS, DIAGNOSTIC; YOUNG ADULT;

EID: 79960093690     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.03.007     Document Type: Article

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