A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: A twelve-year follow-up and literature review

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Stagi, Stefano ^a   Lapi, Elisabetta ^a   Pantaleo, Marilena ^a   Carella, Massimo ^b   Petracca, Antonio ^a   De Crescenzo, Agostina ^c   Zelante, Leopoldo ^b   Riccio, Andrea ^c   de Martino, Maurizio ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

6q24.2 q25.2 deletion; Chromosome deletion; Growth failure; Growth hormone deficiency; Short stature

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; THYROTROPIN;

AMNIOCENTESIS; APGAR SCORE; ARTICLE; ASTIGMATISM; BICUSPID AORTIC VALVE; BIRTH WEIGHT; BODY HEIGHT; BONE AGE; CARDIOMEGALY; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME 6Q; CHROMOSOME DELETION; COLON DISEASE; CONSTIPATION; DISEASE ASSOCIATION; ENDOCRINE DISEASE; FACE DYSMORPHIA; FEEDING DIFFICULTY; FETUS; FOLLOW UP; GASTROESOPHAGEAL REFLUX; GENETIC ASSOCIATION; GESTATIONAL AGE; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HEAD CIRCUMFERENCE; HEART VENTRICLE EXTRASYSTOLE; HORMONAL THERAPY; HUMAN; HYPERTHYREOTROPINEMIA; HYPOPLASIA; HYPOPLASTIC COLON; INGUINAL HERNIA; ITALIAN (CITIZEN); KARYOTYPING; MACROCRANIA; MALE; MITRAL VALVE PROLAPSE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OTITIS MEDIA; PRESCHOOL CHILD; PSEUDOPAPILLEDEMA; PSYCHOMOTOR DISORDER; PULMONARY VALVE INSUFFICIENCY; RECURRENT DISEASE; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE; TRICUSPID VALVE REGURGITATION; VISUAL DISORDER; ABNORMALITIES, MULTIPLE; CHROMOSOME 6; COMPARATIVE GENOMIC HYBRIDIZATION; DEFICIENCY; ECHOCARDIOGRAPHY; GENETICS; GROWTH DISORDERS; ITALY; PATHOLOGY;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOCARDIOGRAPHY; FOLLOW-UP STUDIES; GROWTH DISORDERS; GROWTH HORMONE; HUMANS; ITALY; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE;

EID: 84939626413     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0212-z     Document Type: Article

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