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]

• Feeding Difficulties

  difficulties, global developmental delay, behavioral difficulties, and language delay. [gene.sfari.org]

  difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows [rarediseases.info.nih.gov]

  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]

  […] term Birth weight (g) 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 [bmcmedgenet.biomedcentral.com]

• Poor Feeding

  […] difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows [rarediseases.info.nih.gov]

• Receding Chin

  chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 5%-29% of people have these symptoms Abnormal hand morphology Abnormal shape of hand 0005922 [rarediseases.info.nih.gov]

• Flexion Contracture

  contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle [rarediseases.info.nih.gov]

  contracture Meningitis Abnormality of the ulna Hypotrichosis Narrow mouth Excessive wrinkled skin Anterior creases of earlobe Anteriorly placed anus Abnormality of the sternum High pitched voice Multiple joint contractures Congenital contracture Impulsivity [mendelian.co]

• Muscle Hypotonia

  Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. [bmcmedgenet.biomedcentral.com]

• Short Hands

  His hands were short and stubby with low-set thumbs (Figure 1 B). Both feet presented laterally set fifth toes. [bmcmedgenet.biomedcentral.com]

• Short Neck

  Related phenotypes are webbed neck and short neck [malacards.org]

  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]

  […] chin 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 ] [rarediseases.info.nih.gov]

  […] syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features [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]

• Narrow Forehead

  forehead Decreased width of the forehead 0000341 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Unilateral polymicrogyria 0006927 Webbed neck Neck webbing 0000465 Percent of people who have these symptoms is not available through HPO Ankle [rarediseases.info.nih.gov]

  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 bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Triangular [rarediseases.info.nih.gov]

• Global Developmental Delay

  Orpha Number: 319171 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, retrognathia [rarediseases.info.nih.gov]

  developmental 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 [malacards.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]

  developmental delay, behavioral difficulties, and language delay. [gene.sfari.org]

• 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]

  National Center for Advancing Translational Sciences Summary 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 [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]

• Postural Instability

  […] syndrome characterized by mild global developmental 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 [rarediseases.info.nih.gov]

  instability Decreased testicular size Hypoplasia of the maxilla Wide nose Hypoplasia of the corpus callosum Coloboma Camptodactyly of finger Sporadic Broad columella Dermoid cyst Micropenis Oligohydramnios Hydroureter Polycystic kidney dysplasia Preaxial [mendelian.co]

• 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 Proximal placement of thumb Attachment [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

  […] forehead Decreased width of the forehead 0000341 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Unilateral polymicrogyria 0006927 Webbed neck Neck webbing 0000465 Percent of people who have these symptoms is not available through HPO Ankle clonus [rarediseases.info.nih.gov]

[…] diagnosis treatment chronic lymphocytic leukemia diagnosis and treatment chronic lymphocytic leukemia diagnosis and treatment [ginkgobilobahelp.info]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

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]

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]

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]

BioEssays 30:843–853 PubMed PubMed Central Article Google Scholar Daniel M, Kleis L, Cemeroglu AP (2008) Etiology of failure to thrive in infants and toddlers referred to a pediatric endocrinology outpatient clinic. [link.springer.com]

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]

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]