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Chromosome 17p13.1 Deletion Syndrome


Presentation

  • No duplications or translocations were present in his parents. FISH analysis of both parents was normal.[karger.com]
  • This child presented with tetralogy of Fallot and showed a mild facial phenotype. The deletion was also present in his asymptomatic father.[jmg.bmj.com]
  • Both feet presented laterally set fifth toes.[bmcmedgenet.biomedcentral.com]
  • While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites[books.google.com]
  • A patient presenting with non-syndromic ASD was investigated using a DNA microarray constructed from large insert clones designed to target clinically significant areas of the genome, in addition to all the telomere and pericentromeric regions, for a[ashg.org]
Developmental Delay
  • delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held[malacards.org]
  • Orpha Number: 319171 Disease definition Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay / intellectual disability with poor to absent speech, dysmorphic features (long midface[rarediseases.info.nih.gov]
  • Development: developmental delay, age at walking of 19 months, language delay. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance.[gene.sfari.org]
  • Patients usually have varying degrees of epilepsy, developmental delays, intellectual impairment, autistic spectrum disorders and minor dysmorphic features.[epilepsydiagnosis.org]
Disability
  • European reference portal for information on rare diseases and orphan drugs.Orpha Number: 319171Disease definitionDistal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability[malacards.org]
  • Orpha Number: 319171 Disease definition Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay / intellectual disability with poor to absent speech, dysmorphic features (long midface[rarediseases.info.nih.gov]
  • In conclusion, 17p13.1 microduplications appear to share common features such as intellectual disability, obesity, and endocrine disorders.[karger.com]
  • ZFIN ID: ZDB-PUB-141203-70 Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes Carvalho, C.M., Vasanth, S., Shinawi, M., Russell, C., Ramocki, M.B., Brown[zfin.org]
  • NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as nslh, tosti syndrome Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Short stature Generalized hypotonia SOURCES: MONDO[mendelian.co]
Feeding Difficulties
  • difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 High palate Elevated palate Increased palatal height [ more[rarediseases.info.nih.gov]
  • Yuan B, et al. (2015) Show all Case Details Show all Cohort Details kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001893 yuan_15_DD_discovery_cases-caseBAB2661 Infancy: feeding difficulties, failure to thrive, infantile hypotonia.[gene.sfari.org]
  • Young children, when affected, can suffer from feeding difficulties, severe intellectual disability, developmental delay, and seizures.[en.wikipedia.org]
  • difficulties in infancy Full cheeks Spontaneous abortion Intestinal malrotation Lumbar scoliosis Gastrointestinal dysmotility Abnormal heart valve morphology Metatarsus adductus Hyperactivity Upslanted palpebral fissure Intellectual disability, severe[mendelian.co]
  • difficulties - - - - Muscle hypotonia - Delay in motor function Delay in fine motor skills Cognitive development Global delay Mild to moderate global delay Global delay Normal at 2 years Mild delay Speech delay Neurobehavioural symptoms PDD-NOS Behavior[bmcmedgenet.biomedcentral.com]
Feeding Difficulties
  • difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 High palate Elevated palate Increased palatal height [ more[rarediseases.info.nih.gov]
  • Yuan B, et al. (2015) Show all Case Details Show all Cohort Details kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001893 yuan_15_DD_discovery_cases-caseBAB2661 Infancy: feeding difficulties, failure to thrive, infantile hypotonia.[gene.sfari.org]
  • Young children, when affected, can suffer from feeding difficulties, severe intellectual disability, developmental delay, and seizures.[en.wikipedia.org]
  • difficulties in infancy Full cheeks Spontaneous abortion Intestinal malrotation Lumbar scoliosis Gastrointestinal dysmotility Abnormal heart valve morphology Metatarsus adductus Hyperactivity Upslanted palpebral fissure Intellectual disability, severe[mendelian.co]
  • difficulties - - - - Muscle hypotonia - Delay in motor function Delay in fine motor skills Cognitive development Global delay Mild to moderate global delay Global delay Normal at 2 years Mild delay Speech delay Neurobehavioural symptoms PDD-NOS Behavior[bmcmedgenet.biomedcentral.com]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Physicians caring for patients with relapsed del(17p13.1) CLL should encourage patients to enroll in this study.[hematology.org]
  • Epidemiology [ edit ] Miller-Dieker occurs in less than one in 100000 people and can occur in all races. [ citation needed ] History [ edit ] MDS was named for the two physicians, James Q. Miller [7] and H.[en.wikipedia.org]
Failure to Thrive
  • […] to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.Visit the Orphanet disease page for more resources.[malacards.org]
  • […] to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.[rarediseases.info.nih.gov]
  • Yuan B, et al. (2015) Show all Case Details Show all Cohort Details kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001893 yuan_15_DD_discovery_cases-caseBAB2661 Infancy: feeding difficulties, failure to thrive, infantile hypotonia.[gene.sfari.org]
  • Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen. Death usually occurs in infancy and childhood.[en.wikipedia.org]
  • […] to thrive in infancy Hyperkeratosis Exaggerated cupid's bow Abnormality of vision Narrow forehead Scarring Dental malocclusion Abnormal bleeding Premature birth Thick vermilion border Falls Palmoplantar keratoderma Bruising susceptibility Abnormality[mendelian.co]
High Arched Palate
Strabismus
  • Decreased height of chin Short lower third of face [ more ] 0000331 Short foot Short feet Small feet [ more ] 0001773 Short neck Decreased length of neck 0000470 Short palm 0004279 Sleep disturbance Difficulty sleeping Trouble sleeping [ more ] 0002360 Strabismus[rarediseases.info.nih.gov]
  • […] kidney dysplasia Radial deviation of finger Abnormality of the genital system High forehead Clinodactyly of the 5th finger Cataract Nevus Microcephaly Thin vermilion border Cerebral cortical atrophy Cognitive impairment Sparse hair Low posterior hairline Strabismus[mendelian.co]
Epicanthal Folds
Flexion Contracture
  • contracture 0006380 Long hallux Long big toe 0001847 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal placement of[rarediseases.info.nih.gov]
  • contracture Talipes Anal atresia Flat face Umbilical hernia Wide mouth Syndactyly Splenomegaly Optic atrophy Wide anterior fontanel Multicystic kidney dysplasia Radial deviation of finger Abnormality of the genital system High forehead Clinodactyly of[mendelian.co]
Muscle Hypotonia
  • 3350 3900 4592 3400 3487 Birth length (cm) NA NA 57 51 N Birth head circumference (cm) NA NA NA NA 50 th centile Postnatal growth retardation - - - - - Overgrowth (75 th centile) (90 th centile) 3 SD - (90-97 th centile) Feeding difficulties - - - - Muscle[bmcmedgenet.biomedcentral.com]
Short Hands
  • Our patient is tall with mild facial anomalies like upslanting eyes, squared nasal tip, normal chin, large and low-set ears, short hands with low-set thumbs, while the feet had laterally set fifth toes.[bmcmedgenet.biomedcentral.com]
Short Hands
  • Our patient is tall with mild facial anomalies like upslanting eyes, squared nasal tip, normal chin, large and low-set ears, short hands with low-set thumbs, while the feet had laterally set fifth toes.[bmcmedgenet.biomedcentral.com]
Muscle Hypotonia
  • 3350 3900 4592 3400 3487 Birth length (cm) NA NA 57 51 N Birth head circumference (cm) NA NA NA NA 50 th centile Postnatal growth retardation - - - - - Overgrowth (75 th centile) (90 th centile) 3 SD - (90-97 th centile) Feeding difficulties - - - - Muscle[bmcmedgenet.biomedcentral.com]
Short Neck
  • Related phenotypes are webbed neck and short neck[malacards.org]
  • […] of nose Protruding nasal bridge [ more ] 0000426 Proximal placement of thumb Attachment of thumb close to wrist 0009623 Short chin Decreased height of chin Short lower third of face [ more ] 0000331 Short foot Short feet Small feet [ more ] 0001773 Short[rarediseases.info.nih.gov]
  • Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur.[epilepsydiagnosis.org]
  • neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations.[mendelian.co]
  • His dysmorphic features included thin eyebrows, a bulbous nasal tip, long and smooth philtrum, malar hypoplasia, thin upper lip, micrognathia, and a short neck. Brain MRI detected choroid plexus cysts.[karger.com]
Short Neck
  • Related phenotypes are webbed neck and short neck[malacards.org]
  • […] of nose Protruding nasal bridge [ more ] 0000426 Proximal placement of thumb Attachment of thumb close to wrist 0009623 Short chin Decreased height of chin Short lower third of face [ more ] 0000331 Short foot Short feet Small feet [ more ] 0001773 Short[rarediseases.info.nih.gov]
  • Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur.[epilepsydiagnosis.org]
  • neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations.[mendelian.co]
  • His dysmorphic features included thin eyebrows, a bulbous nasal tip, long and smooth philtrum, malar hypoplasia, thin upper lip, micrognathia, and a short neck. Brain MRI detected choroid plexus cysts.[karger.com]
High Forehead
  • forehead 0000348 High palate Elevated palate Increased palatal height [ more ] 0000218 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hydrocephalus Too[rarediseases.info.nih.gov]
  • PALLISTER KILLIAN SYNDROME (TETRASOMY 12p) This chromosomal abnormality results in dysmorphic features that include a coarsened flat facies, high forehead, reduced scalp hair over the frontal and temporal regions, hypertelorism, a broad nasal bridge,[epilepsydiagnosis.org]
  • Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.[mendelian.co]
Prominent Nasal Root
  • nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal placement of thumb Attachment of thumb close to wrist 0009623 Short chin Decreased height of chin Short lower third of face [ more ] 0000331 Short foot Short feet[rarediseases.info.nih.gov]
Sleep Disturbance
  • MalaCards based summary : Chromosome 17p13.1 Deletion Syndrome, is also known as distal 17p13.1 microdeletion syndrome, and has symptoms including sleep disturbances An important gene associated with Chromosome 17p13.1 Deletion Syndrome is DEL17P13.1[malacards.org]
  • disturbance Difficulty sleeping Trouble sleeping [ more ] 0002360 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Showing of 29 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
  • Sleep disturbance. Physical features: facial dysmorphism, hindfoot valgus, unusual gait/dropped foot, distal extremity weakness/atrophy, reduced/absent ankle deep tendon reflexes; sensory loss not reported.[gene.sfari.org]
  • Smith-Magenis syndrome (SMS) is a multiple congenital anomaly syndrome characterised by mental retardation, neurobehavorial abnormalities, sleep disturbances, short stature, minor craniofacial and skeletal anomalies, congenital heart defects and renal[cytocell.com]
  • disturbances FLI1 99% Soto syndrome 14-17 5q35 (NSDI) Cardinal ( 90%): Characteristic facial features, learning disabilities, overgrowth.[labcorp.com]
Hyperactivity
  • Increased palatal height [ more ] 0000218 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hyperactive[rarediseases.info.nih.gov]
  • Affected individuals tend to be hyperactive and talkative (summary by Graham et al., 1999 ).In their original family, Opitz and Kaveggia (1974) named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames.[mendelian.co]
  • Hyperactivity and food hoarding were seen in 4 out of 6 reported patients to date. Three out of 6 patients showed abnormalities on brain MRI.[karger.com]
  • […] skills Cognitive development Global delay Mild to moderate global delay Global delay Normal at 2 years Mild delay Speech delay Neurobehavioural symptoms PDD-NOS Behavior problems, aggressive tendencies Behavior problems particularly with food Autism, hyperactivity[bmcmedgenet.biomedcentral.com]
Poor or Absent Speech
  • […] to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.Visit the Orphanet disease[malacards.org]
  • Orpha Number: 319171 Disease definition Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay / intellectual disability with poor to absent speech, dysmorphic features (long midface[rarediseases.info.nih.gov]
  • ABSTRACT The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variable clinical features, most prominently[zfin.org]
Hyperactive Deep Tendon Reflexes
  • deep tendon reflexes 0006801 Inverted nipples 0003186 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Knee flexion contracture 0006380 Long hallux Long big toe 0001847 Prominent nasal bridge Elevated nasal[rarediseases.info.nih.gov]
  • deep tendon reflexes Abnormality of the hip bone Pleural effusion Recurrent upper respiratory tract infections Cardiac arrest Opacification of the corneal stroma Broad ribs Gingival overgrowth Hypertrichosis Hepatitis Spastic tetraplegia Neurodegeneration[mendelian.co]
Clonus
  • Showing of 29 5%-29% of people have these symptoms Webbed neck Neck webbing 0000465 Percent of people who have these symptoms is not available through HPO Ankle clonus Abnormal rhythmic movements of ankle 0011448 Anteverted nares Nasal tip, upturned Upturned[rarediseases.info.nih.gov]

Treatment

  • […] diagnosis treatment chronic lymphocytic leukemia diagnosis and treatment chronic lymphocytic leukemia diagnosis and treatment[ginkgobilobahelp.info]
  • Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.[rarediseases.info.nih.gov]
  • Comment: As hematologists, we have been mesmerized by the transformative power of imatinib in the treatment of CML.[hematology.org]
  • Publication Analysis Top Keywords associated treatment-free 4 institution proportional 4 References (Supplied by CrossRef)[pubfacts.com]
  • Treatment and prognosis The overall prognosis is poor with most fetuses not surviving beyond infancy. There may be recurrence rate of 25% for future pregnancies.[radiopaedia.org]

Prognosis

  • Treatment and prognosis The overall prognosis is poor with most fetuses not surviving beyond infancy. There may be recurrence rate of 25% for future pregnancies.[radiopaedia.org]
  • The current trial builds upon those observations by exclusively targeting treatment of patients with CLL or SLL with del(17p13.1) with the aim of identifying effective therapy for this poor prognosis group.[hematology.org]
  • Prognosis [ edit ] Most individuals with this condition do not survive beyond childhood. Individuals with MDS usually die in infancy and therefore do not live to the age where they can reproduce and transmit MDS to their offspring.[en.wikipedia.org]
  • METHODS: We examined the cytogenetic features of hyperdiploidy in 201 Chinese patients with newly diagnosed myeloma using magnetic-activated cell sorting and interphase fluorescence in situ hybridization and analyzed the effect of hyperdiploidy on the prognosis[readbyqxmd.com]

Etiology

  • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992; 50(5):924-933. PubMed 1349199 6. Goldmuntz E, Emanuel B. Genetic disorders of cardiac morphogenesis.[labcorp.com]
  • Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism.[epilepsydiagnosis.org]

Epidemiology

  • Epidemiology [ edit ] Miller-Dieker occurs in less than one in 100000 people and can occur in all races. [ citation needed ] History [ edit ] MDS was named for the two physicians, James Q. Miller [7] and H.[en.wikipedia.org]
Sex distribution
Age distribution

Prevention

  • Our data support careful observation for low-risk patients, potentially preventing unnecessary use of aggressive therapies. Still can't find the full text of the article? We can help you send a request to the authors directly.[pubfacts.com]
  • […] partner of TP53 and it functions as a positive modulator of cell cycle and cell proliferation mainly through the repression of TP53 pathway TGM2-mediated autophagy and CDKN1A-mediated cell cycle arrest are two important barriers in the TP53 pathway that prevent[genatlas.medecine.univ-paris5.fr]

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