In regard to diagnostic approach for the present case, we performed exome-first approach postnatally following prenatal G-banding analysis. [hindawi.com]

Hypogonadism, present in both males and females, manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. [ncbi.nlm.nih.gov]

The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common terminal deletion syndrome 2. There is a broad spectrum of variability in the clinical presentation of monosomy 1p36. [radiopaedia.org]

Intellectual disability is usually present, though the degree ranges in severity; behavioral concerns including hyperphagia (over-eating without feeling full), autism-like behavior, and self-injurious behavior may also be present in approximately 30% [my46.org]

• Disability

  The most important medical concerns are those related to neurodevelopmental disability, seizures, and heart defects. Management is symptom-directed and largely supportive. Related Information [onlinelibrary.wiley.com]

  Intellectual disability: Older children and adults with 1p36 Deletion Syndrome have some degree of intellectual disability. [1p36dsa.org]

  Affiliated tissues include brain, heart and eye, and related phenotypes are agenesis of corpus callosum and intellectual disability Genetics Home Reference : 26 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. [malacards.org]

  Due to such a wide variety of physical disabilities, life expectancy and death varies amongst individuals. Molecular Genetics 1p36 Deletion Syndrome is caused by the deletion of the short arm of chromosome 1. [wiki.ggc.edu]

  Approximately 90% have severe to profound intellectual disability, whereas 10% have mild to moderate cognitive impairment. [ncbi.nlm.nih.gov]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Developmental delay/intellectual disability of variable degree and hypotonia are present in almost all patients. Seizures occur in around half of affected individuals. [genome.jp]

  Hypotonia (low muscle tone) is also common, which may contribute to developmental delay. [my46.org]

  They present with features of monosomy 1p36, including developmental delay and mental retardation, dysmorphic features, hypotonia, behavioral abnormalities including hyperphagia, and seizures. [einstein.pure.elsevier.com]

  She had a history of hypotonia, global developmental delay, and feeding intolerance. [frontiersin.org]

• Weight Gain

  One common problem is delayed growth or difficulty in gaining weight. Even though some of the children may eat well, they still may not grow normally. In contrast, some children may develop hyperphagia, which is overeating, and may become obese. [wikidoc.org]

  Failure to thrive is defined as the failure to grow and gain weight at a rate that would be expected based upon age and gender. [rarediseases.org]

• Vomiting

  […] tetralogy of fallot (defect of the ventricle) Developmental Delays The most common features of 1p36 deletion syndrome are delays on the child's development, learning disability, inferior muscle tone, difficulty of feeding (slow sucking or swallowing; even vomiting [signssymptoms.org]

  Developmental Delays The most common features of 1p36 deletion syndrome are delays on the child's development, learning disability, inferior muscle tone, difficulty of feeding (slow sucking or swallowing; even vomiting during infancy), facial features [medigest.uk]

  Some of the other feeding issues include poor sucking and swallowing, reflux, and vomiting in infancy. Many require nasalgastric or gastric tubes to ensure they are receiving sufficient nutrition. [wikidoc.org]

  Intestinal pseudo-obstruction leads to accumulation of incompletely digested food in the intestines, which causes abdominal distention, pain, nausea, vomiting, and constipation or diarrhea. [news-medical.net]

  Feeding difficulties may be caused by hypotonia and/or oral facial clefts with related difficulty in sucking, poorly coordinated swallow with consequent aspiration, and/or gastroesophageal reflux and vomiting. [ncbi.nlm.nih.gov]

• Failure to Thrive

  Hypotonia and feeding difficulties with failure to thrive were observed since birth. His weight was only 6kg until 1 year of age. [enlivenarchive.org]

  In general, children will exhibit failure to thrive and global delays.[2] Developmental and behavioral[edit] Most young children with 1p36 deletion syndrome have delayed development of speech and motor skills. [en.wikipedia.org]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Global developmental delay 0001263 Horizontal eyebrow Flat eyebrow Straight eyebrow [ more ] 0011228 Intellectual [rarediseases.info.nih.gov]

  Failure to thrive is defined as the failure to grow and gain weight at a rate that would be expected based upon age and gender. [rarediseases.org]

  Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. [ncbi.nlm.nih.gov]

• Nausea

  Intestinal pseudo-obstruction leads to accumulation of incompletely digested food in the intestines, which causes abdominal distention, pain, nausea, vomiting, and constipation or diarrhea. [news-medical.net]

• Asymmetry of the Ears

  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]

• Hirsutism

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

  By comparison, proximal deletions beyond 1p36.23 (usually interstitial) show non-classical features including severe intellectual disability, hirsutism, abnormal ears, coarse facies, congenital heart disease, and variable cardiomyopathy [4, 5]. [molecularcytogenetics.biomedcentral.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]

  She had generalized hirsutism. Neurological examination showed hypotonia, hyporeflexia, and inability to stand unsupported. Brain MRI revealed delayed white matter myelination related to age and minimal brain sub volume. [medicalandresearch.com]

• Small Head

  Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally [rarediseases.oscar.ncsu.edu]

  1p36 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 1 and is characterized by moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features including a small head [myriad.com]

  Other features include a small head that is unusually short and wide; vision and hearing problems; abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia; and distinctive facial features. 1p36 deletion syndrome is caused [rarediseases.org]

  Introduction People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). [encyclopedia.pub]

• Short Fifth Finger

  5th finger Short 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 [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 17camptodactyly,11 17 and small hands and feet9 11 13 were noted in some patients. [jmg.bmj.com]

  Hockey-stick palm crease on her right hand, bilateral short fifth finger and one hyperpigmented macule on the back were also observed. [bmcpediatr.biomedcentral.com]

• Large Anterior Fontanels

  The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. null null null The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set [scinapse.io]

  anterior fontanelle (soft spot in the skull of newborns and young babies), epicanthal folds (extra skin over the inside corner of the eye), microcephaly (small head), and brachycephaly (broad head). [my46.org]

  For instance, a syndrome characterized by distinct dysmorphic features, such as large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge, and a pointed chin was found in ∼1 out of 5,000 live births [Shapira et al [karger.com]

  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]

• Global Developmental Delay

  Mutation of HERC2 ~ (also known as MRT38 – autosomal recessive, cognitive impairment) located on 15q13.1; disruption of HERC2 function relates to a reduction in E6-AP activity, resulting in global developmental delay and autistic features similar to AS [cureangelman.org.au]

  Mutation of HERC2 – also known as MRT38 – autosomal recessive, mental retardation) located on 15q13.1; disruption of HERC2 function relates to a reduction in E6-AP activity, resulting in global developmental delay and autistic features similar to AS. [cureangelman.org]

  Some degree of global developmental delay is almost universal among people with 1p36 deletion syndrome; typically, speech development is most severely affected and individuals may not be able to verbally communicate until late childhood. [my46.org]

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  She had a history of hypotonia, global developmental delay, and feeding intolerance. [frontiersin.org]

• Delayed Milestone

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

Clinical Testing and Workup In the past, a specific chromosomal study known as G-band analysis, which demonstrates missing (deleted) material on chromosome 17p, was used to help obtain a diagnosis of SMS. [rarediseases.org]

See Slideshow What is the treatment for 1p36 deletion syndrome? Share Your Story Treatment is limited; symptomatic treatment is the usual treatment available. [medicinenet.com]

Treatment is limited; symptomatic treatment is the usual available approach. [myriad.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

[…] thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment [books.google.com]

Some individuals may have severe complications due to skeletal, heart, gastrointestinal, or renal abnormalities. 1p36 Deletion Syndrome Treatment Treatment for 1p36 Deletion Syndrome is symptomatic depending on the features of an individual. [evolvegene.com]

What is the prognosis and life expectancy for 1p36 deletion syndrome? Part of the prognosis for individuals with 1p36 deletion syndrome really depends on how much of DNA is missing from the p36 region. [medicinenet.com]

Prognosis of 1p36 Deletion Syndrome A individual person’s prognosis with 1p36 deletion syndrome differs on how much DNA is deleted from the p36 section. A few researches now record p36 as p36.1 to p36.3. [syndromespedia.com]

1p36 Deletion Syndrome has a variable prognosis. [evolvegene.com]

The infant, currently 2 years old, has a very guarded prognosis and multiple comorbidities: epilepsy, severe development delay, severe hydrocephalus, bilateral congenital vertical talus, congenital cataract, hearing loss, Ebstein anomaly and interventricular [ejog.org]

Prognosis The severity of the 1p36 deletion syndrome varies between affected individuals. Seizures and other medical issues seem to improve with time. [orpha.net]

[…] written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology [books.google.com]

Etiology 1p36 deletion syndrome is caused by a partial heterozygous deletion that primarily involves the distal part of the short arm of chromosome 1, with breakpoints ranging from 1p36.13 to 1p36.33. [orpha.net]

[…] deletion but rather a spectrum of different deletion sizes with a common minimal region of deletion overlap Genotype/phenotype comparisons can help researchers to start to define a region in which to search for candidate genes for specific features Etiology [en.wikibooks.org]

Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology. Curr Opin Pediatr. (2007) 19:619–27. doi: 10.1097/MOP.0b013e3282f1ecbc CrossRef Full Text | Google Scholar 8. [frontiersin.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Summary Epidemiology 1p36 deletion syndrome is considered one of the most common chromosome deletion syndromes; in the USA, the birth prevalence is estimated at 1/ 5,000. A higher frequency is observed among females. [orpha.net]

In a detailed review of all the genes located in the overlapped region of Neal’s patient and our patient (Fig. 2), we found that the HES3 gene could correlate with the pathophysiology of DRS, since this gene has been associated with the morphogenesis [molecularcytogenetics.biomedcentral.com]

Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease. Pediatr Int. 50: 825-7, 2008 Ito H, Mori K, Inoue N, Kagami S. A case of Kabuki syndrome presenting West syndrome. Brain Dev 2007; 29: 380-2. [tokudai-pediatrics.net]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

The 1p36 region contains a number of tumor-suppressor genes, which are genes that act to prevent cell growth. The deletion of one or more of these genes can cause malignancy (cancer). [wikidoc.org]

[…] the 1p36 deletion syndrome is likely to be a contiguous gene deletion syndrome.20 22 Clinical features DEVELOPMENT Developmental delay is almost invariable, although the small number of older children and adults with pure 1p36 monosomy reported has prevented [jmg.bmj.com]

Gamma-secretase inhibitor prevents Notch3 activation and reduces proliferation in human lung cancers. Cancer Res. 2007; 67(17):8051-7. Laureys G, Speleman F, Opdenakker G, Benoit Y, Leroy J. [google.ch]