title: Morbid obesity in a child with monosomy 1p36 syndrome.
abstract: The monosomy 1p36 syndrome is a cause of syndromic obesity. It is characterised by psychomotor delay, hypotonia and typical craniofacial dysmorphism. Other features commonly associated are behavioural anomalies including hyperphagia and self-injuring, seizures, congenital heart disease and hypothyroidism. The authors report the case of a 9-year and 5-month-boy referred to the paediatric endocrinology clinics for morbid obesity. Clinical findings were generalised obesity with a body mass index >95th centile, acanthosis nigricans of the neck, arms with self inflicted lesions, deep-set eyes, straight eyebrows, broad nasal bridge and pointed chin. He was unable to walk and had no expressive language. Cytogenetic analysis identified 1p36.33-pter deletion (~139 Mb terminal deletion in chromosome 1 short arm) and Y chromosome duplication. The blood analysis showed insulin resistance and dyslipidaemia. The authors emphasise the need to consider monosomy 1p36 as a cause of severe psychomotor delay and obesity.
authors.affiliation: Pediatric Department, Hospital de Santo André, Centro Hospitalar Leiria Pombal, Portugal. ana_zagalo@yahoo.co.uk
authors.forename: Ana
authors.initials: A
authors.lastname: Zagalo
authors.forename: Patricia
authors.initials: P
authors.lastname: Dias
authors.forename: Carla
authors.initials: C
authors.lastname: Pereira
authors.forename: Maria de Lurdes
authors.initials: Mde L
authors.lastname: Sampaio
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000188:drug therapy; D002878:Chromosomes, Human, Pair 1; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D006801:Humans; D008297:Male; D009767:Obesity, Morbid / Q000235:genetics*