Cases below ‘present case' correspond to DECIPHER's cases with a major overlapping to the present deletion. [karger.com]

Part A 2012 A newborn with dysmorphic features and malformations is presented, whose karyotype showed an abnormal copy of chromomosome 7 described at first as add(7)(q32) as well as mos 45,X/47,XXX, which predisposes to meiotic recombination that can [semanticscholar.org]

Cytopenia’s cause clinical manifestations, with symptoms and signs of anemia (such as fatigue and dyspnea), neutropenia (such as infections), and thrombocytopenia (such as hemorrhage), which are usually present at the time of diagnosis and predominate [janssenmedicalcloud.com]

Cases below ‘present case’ correspond to DECIPHER's cases with a major overlapping to the present deletion. [ncbi.nlm.nih.gov]

Authors: Manorama Bhargava Former Senior Advisor and Head Hematopathology, Medanta-The Medicity, New Delhi, India Explains the significance of the results obtained towards the prognosis and treatment response Presents several case studies in hematologic [link.springer.com]

• Fishing

  One of the specimen slides could not be evaluated by FISH due to poor morphology and no FISH abnormalities were found in the remaining 7 specimens. [patents.google.com]

  Molecular, and fluorescence in situ hybridization (FISH) analyses confirmed no deletion at the Williams-Beuren Syndrome region. [avesis.akdeniz.edu.tr]

  The first few chapters describe the methodology employed for karyotyping, FISH and Real Time PCR technology conducive to establishment of these labs if required. [link.springer.com]

• Weakness

  She has not developed any teeth, has a weak cry, and her weight, length and OFC were 5,500 g (<3rd percentile), 67.5 cm (<3rd percentile) and 42 cm (<3 percentile), respectively. [karger.com]

  If the specimen appeared to be extremely acellular or the morphology of the cells was disturbed, or the hybridization signal was too weak, then the sample was rejected for FISH enumeration. [patents.google.com]

• Recurrent Respiratory Infection

  Currently, she is recovering from episodes of recurrent respiratory infection. Fig. 1 A Craniofacial, hand and mouth features of the patient. [karger.com]

  Currently, she is recovering from episodes of recurrent respiratory infection. A Craniofacial, hand and mouth features of the patient. [ncbi.nlm.nih.gov]

• Recurrent Infection

  Currently, she is recovering from episodes of recurrent respiratory infection. A Craniofacial, hand and mouth features of the patient. [ncbi.nlm.nih.gov]

  Currently, she is recovering from episodes of recurrent respiratory infection. Fig. 1 A Craniofacial, hand and mouth features of the patient. [karger.com]

• Regurgitation

  In addition, she had foramen ovale, patent ductus arteriosus and tricuspid regurgitation. At 12 months, she is still unable to control her head. Her reaction to auditory stimuli is poor, but she follows light stimuli. [karger.com]

• Blue Sclera

  She presented with big eyes, blue sclerae, wide fontanelles, prominent eyebrows, low-set ears with overfolded helix, upslanting palpebral fissures, apparent telecanthus, bulbous nasal tip, hypoplastic nasal alae, short columella, apparently increased [karger.com]

• Retinal Damage

  Coincidentally, the HBP1 (high mobility group box transcription factor) gene is alike to HMGB1 (high-mobility group box 1 protein) that is known to be an endogenous molecule for signalling of retinal damage and inflammatory stress [Lee et al., 2012]. [karger.com]

• Corneal Opacity

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• Thin Lips

  […] vermilion border, thin lips, marked Cupid's bow, cleft soft palate, micrognathia, bilateral single palmar crease, and bilateral fifth finger clinodactyly (fig. 1A). [karger.com]

• Suggestibility

  These facts suggest that other genes of the cytochrome P450s family could be related as well. [karger.com]

  Overlapping targets or poor hybridization to some cells can falsely suggest monosomy. [patents.google.com]

• Psychomotor Retardation

  She exhibited, among other features, psychomotor retardation, congenital severe bilateral glaucoma, a cleft palate, and heart defect. [karger.com]

With the ever increasing intensity of treatment regimens and treatment of relapsed patients there is a greater number of children at risk of the metabolic demands of their disease and treatment. [edicioneslallave.com]

’s cause clinical manifestations, with symptoms and signs of anemia (such as fatigue and dyspnea), neutropenia (such as infections), and thrombocytopenia (such as hemorrhage), which are usually present at the time of diagnosis and predominate during treatment [janssenmedicalcloud.com]

Authors: Manorama Bhargava Former Senior Advisor and Head Hematopathology, Medanta-The Medicity, New Delhi, India Explains the significance of the results obtained towards the prognosis and treatment response Presents several case studies in hematologic [link.springer.com]

The methods can thus simultaneously diagnose a lung cancer and provide useful information as to possible treatments for the cancer. Several of the probes described herein are directed to oncogenes and tumor suppressor genes. [patents.google.com]

Authors: Manorama Bhargava Former Senior Advisor and Head Hematopathology, Medanta-The Medicity, New Delhi, India Explains the significance of the results obtained towards the prognosis and treatment response Presents several case studies in hematologic [link.springer.com]

¶These markers should not be used as markers of a poor prognosis if they occur concomitantly with AML subgroups with a favourable risk. [janssenmedicalcloud.com]

Prognosis is good with remission in approximately 50% of infants by 1 year of age, 75% at 2 years and 90% at 3 years of age. [edicioneslallave.com]

Considering the possible errors due to the finite number of specimens tested, several of the high ranking probe combinations can be compared based on other practical characteristics such as relevance to disease prognosis or difficulty in making the probe [patents.google.com]

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