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]

• 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]

• 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]

• Ataxia

  MDAniridia Cerebellar Ataxia Mental Deficiency (aka: Gillespie syndrome; Aniridia, Partial-Cerebellar Ataxia-Oligophrenia; Aniridia-Cerebellar Ataxia-Mental Retardation)hrenia)Yes1/24/2017Anophthalmia, bilateralAnophthalmia, bilateralYes1/24/2017Anophthalmia [docs.google.com]

  […] aplasia of thymus and parathyroid HIRA (TUPLE1) >90% Isolated lissencephaly 7 17p13.3 Lissencephaly LIS1 ~40% Kallmann syndrome 3,8 Xp22.3 Hypogonadism, anosmia/hyposmia, obesity, mental retardation, short stature, renal abnormalities, cryptorchidism, ataxia [labcorp.com]

  The patient has severe intellectual impairment, developmental delay, epilepsy, sleep disorder, jerky movements (especially hand-flapping), ataxia, frequent laughter or smiling, and usually a happy demeanor. [epilepsydiagnosis.org]

  Best Pract Res Clin Endocrinol Metab 25:181–190 PubMed Article CAS Google Scholar O’Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA (2003) A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results [link.springer.com]

• Cerebellar Ataxia

  Ataxia MDAniridia Cerebellar Ataxia Mental Deficiency (aka: Gillespie syndrome; Aniridia, Partial-Cerebellar Ataxia-Oligophrenia; Aniridia-Cerebellar Ataxia-Mental Retardation)hrenia)Yes1/24/2017Anophthalmia, bilateralAnophthalmia, bilateralYes1/24/2017Anophthalmia [docs.google.com]

[…] 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]