Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

Molecular Cytogenetics

Volumn 7, Issue 1, 2014, Pages

  Vetro, Annalisa ^a   Pagani, Sara ^b   Silengo, Margherita ^c   Severino, Mariasavina ^d   Bozzola, Elena ^e   Meazza, Cristina ^b   Zuffardi, Orsetta ^b   Bozzola, Mauro ^b  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

2p duplication; 2q deletion; Growth hormone deficiency; Pituitary hypoplasia

Indexed keywords

GROWTH HORMONE; PROTEIN TYROSINE PHOSPHATASE SHP 2; SOMATOMEDIN C;

AMNIOCENTESIS; APGAR SCORE; ARTICLE; BRACHYCEPHALY; CASE REPORT; CHILD; CHROMOSOME 2P; CHROMOSOME 2P25; CHROMOSOME 2P37; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; GLOBUS PALLIDUS; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; GROWTH RATE; HUMAN; HYPOPHYSIS DISEASE; HYPOTHALAMUS HYPOPHYSIS SYSTEM; KARYOTYPE; LOW SET EAR; MALE; MICROGNATHIA; MITRAL VALVE DISEASE; MUSCLE HYPOTONIA; NEUROHYPOPHYSIS; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PITUITARY STALK; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PSYCHOMOTOR DISORDER; PTOSIS; SPEECH DISORDER; SPEECH THERAPY; SYSTOLIC HEART MURMUR;

EID: 84902705634     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-7-41     Document Type: Article

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