title: 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.
abstract: BACKGROUND
  Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descriptions are lacking.
  
  
  METHODS
  We describe a male of Italian descent born at 35 weeks by elective caesarean delivery presenting hypoplastic left colon, bilateral inguinal hernia, dysplastic tricuspid and pulmonary valves, premature ventricular contractions, recurrent otitis media, poor feeding, gastro-oesophageal reflux, bilateral pseudopapilledema, and astigmatism. He also showed particular facial dysmorphisms and postnatal growth failure. Early psychomotor development was mildly delayed. At 3.75 years, he was evaluated for severe short stature (-2.98 SD) and delayed bone age. He showed an insulin-like growth factor 1 concentration (IGF-1) in the low-normal range. Growth hormone stimulation tests showed a low response to clonidine and insulin. Magnetic resonance imaging showed hypophyseal hypoplasia. Genetic evaluation by Single Nucleotide Polymorphism arrays showed a de novo 6q24.2-q25.2 deletion on paternal chromosome 6.
  
  
  CONCLUSIONS
  We confirm that this is a new congenital malformation syndrome associated with a deletion of 6q24.2-q25.2 on paternal chromosome 6. We suggest evaluating the growth hormone axis in children with 6q24.2-q25.2 deletions and growth failure.
authors: Endocrine Paediatric Unit, Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. stefano.stagi@yahoo.it.
authors: Stefano
authors: S
authors: Stagi
authors: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. elisabetta.lapi@meyer.it.
authors: Elisabetta
authors: E
authors: Lapi
authors: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. marilena.pantaleo@meyer.it.
authors: Marilena
authors: M
authors: Pantaleo
authors: Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy. m.carella@operapadrepio.it.
authors: Massimo
authors: M
authors: Carella
authors: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. antonio.petracca@meyer.it.
authors: Antonio
authors: A
authors: Petracca
authors: Department of Environmental Science, Second University of Naples, Caserta, Italy. agostina.decrescenzo@unina2.it.
authors: Agostina
authors: A
authors: De Crescenzo
authors: Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy. zelante@operapadrepio.it.
authors: Leopoldo
authors: L
authors: Zelante
authors: Department of Environmental Science, Second University of Naples, Caserta, Italy. andrea.riccio@unina2.it.
authors: Andrea
authors: A
authors: Riccio
authors: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. maurizio.demartino@unifi.it.
authors: Maurizio
authors: M
authors: de Martino
mesh_terms: D000015:Abnormalities, Multiple / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004452:Echocardiography; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D013006:Growth Hormone / Q000008:administration & dosage / Q000172:deficiency*; D006801:Humans; D007558:Italy; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male
chemical_list: D013006:Growth Hormone