Excessive weight gain and obesity may be seen in adolescence and approximately 90% of children may be overweight or obese by the age of 14. [rarediseases.org]

Chromoanagenesis is a mechanism by which a cell responds to a collapsed DNA replication fork by generating a double-strand break followed by DNA synthesis, during which templates are switched repeatedly [Holland and Cleveland, 2012]. [karger.com]

Other abnormalities reported in a few individuals with 1p36 deletion syndrome include the following: Hypertrophic pyloric stenosis Anteriorly placed or imperforate anus, hooked or bilobed gallbladder, and small spleen [ Battaglia et al 2008 ] Differential [ncbi.nlm.nih.gov]

2005) Hypertrophic pyloric stenosis Anteriorly placed or imperforate anus, hooked or bilobed gallbladder, and small spleen (Battaglia et al., 2008) Neuroblastoma (Laureys et al., 1990, Biegel et al., 1993, Anderson et al., 2001) - Pemphigus vulgaris [google.ch]

A detailed investigation of hirsutism in a Turkish population: idiopathic hyperandrogenemia as a perplexing issue. [ijsciences.com]

[…] nerve paralysis 0006824 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Foot polydactyly Duplication of bones of the toes 0001829 Frontal bossing 0002007 Generalized hirsutism [rarediseases.info.nih.gov]

Distinct facial features including: Large anterior fontanel ( 100% of patients) Small and pointed chin ( 80%) Flat nasal bridge ( 65%) Clinodactyly and/or short fifth finger ( 64%) Low-set ears, ear asymmetry ( 59%) Thickened ear helices ( 53%) Small [en.wikibooks.org]

[…] of the ears Asymmetric ears 0010722 Bicuspid aortic valve Aortic valve has two leaflets rather than three 0001647 Ebstein anomaly of the tricuspid valve 0010316 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Myopia Close sighted Near [rarediseases.info.nih.gov]

fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Thickened helices 0000391 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Wide anterior fontanel Wider-than-typical [rarediseases.info.nih.gov]

Distinct facial features including: Large anterior fontanel ( 100% of patients) Small and pointed chin ( 80%) Flat nasal bridge ( 65%) Clinodactyly and/or short fifth finger ( 64%) Low-set ears, ear asymmetry ( 59%) Thickened ear helices ( 53%) Small [en.wikibooks.org]

fifth fingers or fifth finger clinodactyly, 2 4 9 17 camptodactyly, 11 17 and small hands and feet 9 11 13 were noted in some patients. [jmg.bmj.com]

A specific behavior phenotype with temper tantrums, stubbornness, rigidity, stealing, lying, manipulative behavior, and obsessive-compulsive characteristics is common. [ncbi.nlm.nih.gov]

However, some features seen in at least one of the four reported patients were not observed in our patient, including large anterior fontanelle, brachycephaly, short neck, flat nasal bridge, posteriorly rotated ears, pointed chin, micrognathia, small [enlivenarchive.org]

Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnormalities (growth retardation, microcephaly, obesity), and craniofacial dysmorphism with a large anterior fontanelle [jmg.bmj.com]

anterior fontanelle, or the anterior fontanelle may close late. [5] Other congenital defects [ edit ] Skeletal [ edit ] Short feet, brachydactyly (short fingers), and camptodactyly (permanent flexion of a finger), fifth finger clinodactyly (abnormal [en.wikipedia.org]

Distinct facial features including: Large anterior fontanel ( 100% of patients) Small and pointed chin ( 80%) Flat nasal bridge ( 65%) Clinodactyly and/or short fifth finger ( 64%) Low-set ears, ear asymmetry ( 59%) Thickened ear helices ( 53%) Small [en.wikibooks.org]

A characteristic facial appearance, hypotonia, psychomotor retardation and poor or absent speech are suggestive of chromosome 1p36 deletion syndrome, and the diagnosis is confirmed by detecting a deletion of the most distal band of the short arm of chromosome [nature.com]

Diagnosis Clinical Diagnosis The diagnosis of 1p36 deletion syndrome is suggested by the characteristic facial appearance, hypotonia, psychomotor retardation, and poor or absent speech and is confirmed by detection of a deletion of the most distal band [ncbi.nlm.nih.gov]

Autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, and acquired microcephaly also occur. [ncbi.nlm.nih.gov]

Angelman syndrome (AS) is characterized by severe developmental delay/intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing [ncbi.nlm.nih.gov]

Autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, and acquired microcephaly also occur. [ncbi.nlm.nih.gov]

The hallmark of the disease is the loss of purposeful hand use and its replacement with repetitive stereotyped hand movements. [ncbi.nlm.nih.gov]

[…] height [ more ] 0000218 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplasia of the corpus callosum Underdevelopment of part of brain called corpus callosum 0002079 Hypsarrhythmia [rarediseases.info.nih.gov]

Almost 20% of all persons with the disorder have infantile spasms associated with hypsarrhythmia on EEG. Infantile spasms may either be the presenting seizure type or may follow other seizure types. [ncbi.nlm.nih.gov]