Their patient also presented with hexadactyly, brachydactyly, and camptodactyly similar to our patient who presented with clinodactyly. [hindawi.com]

Phenotypic presentation varied depending on the size of the region and the genes involved. [karger.com]

Losses and/or gains of genetic material can be present depending on the RC formation mechanism. [frontiersin.org]

These chromosome abnormalities are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. [encyclopedia.pub]

The 20q signals were still present on both 20q chromosomes and on 22qter whereas those related to 6p were present on both 6p chromosomes only (fig 1B). [jmg.bmj.com]

• Fishing

  Dev Biol 172: 86–99 CrossRef PubMed CAS Google Scholar Uyeno T, Smith GR (1972) Tetraploid origin of the karyotype of catostomid fishes. [link.springer.com]

  (D) FISH with tel22q (Cytocell) probe shows fluorescent signals on both chromosome 22 homologues. [jmg.bmj.com]

  Cytogenetic analysis showed additional material on the long arm of chromosome 20, confirmed by fluorescence in situ hybridization (FISH) analysis as being of chromosome 20 origin. [pubmed.ncbi.nlm.nih.gov]

  Subsequently, subtelomeric FISH was performed with Vysis 30-27000 ToTelVysion Probe Kit (17q [Yellow], 20p [Green], 20q [Red]). [karger.com]

  The de novo occurrence of the microduplication was confirmed by FISH analysis that showed normal parental karyotypes. [hindawi.com]

• Cyanosis

  When direct breastfeeding was started, a dramatic drop in SpO2-45% with associated cyanosis was observed. [ipcares.org]

• Unilateral Ptosis

  The patient was noted to have facial dysmorphic features including anteverted nares, short nose, tented philtrum, round face, micrognathia, epicanthic folds, unilateral ptosis, and clinodactyly (Table 1). [hindawi.com]

• Sparse Eyebrows

  The proband shows very mild dysmorphic features such as round face with bulbous nose tip, sparse eyebrows and eyelashes, large, posteriorly rotated ears, thin helix, grooved philtrum, thin lips, and hypoplastic toenails. [jmg.bmj.com]

• Short Nose

  Fused or irregularly shaped vertebrae have been frequently shown spinal abnormalities and develop kyphosis.[9] Minor genital anomalies are relatively common,[9] as are congenital cardiac septal defects.[10] Unusual findings are short nose with large nostrils [ipcares.org]

  The patient was noted to have facial dysmorphic features including anteverted nares, short nose, tented philtrum, round face, micrognathia, epicanthic folds, unilateral ptosis, and clinodactyly (Table 1). [hindawi.com]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Fig. 3 The pedigree of the family suggestive of maternal inheritance. The arrow indicates patient 1. [karger.com]

  Expression analyses show that RYs are strongly expressed in the olfactory epithelium, suggesting that they also could act as odorant transporters or detoxification agents in the olfactory system. [hal.inrae.fr]

  Studies suggest that some genes on the long arm of the chromosome may play critical roles in controlling the growth and division of cells. 2.4. [encyclopedia.pub]

  The finding of two cryptic telomeric rearrangements detected in a cohort of 150 control subjects suggested that submicroscopic telomeric abnormalities are not an uncommon finding in the general population. [jmg.bmj.com]

It is very important to do a complete exploration of the upper respiratory and GI anatomy when looking for causes of feeding-related difficulties, as was done in the workup of this case. [ipcares.org]

We include an extensive genetic workup and clinical and behavioural assessments in order to assist clinicians when presented with these patients in their practices, to improve the care and management of children presenting with such genetic syndromes. [hindawi.com]

They fly individuals to hospitals and treatment centers in 26 states within a 600 mile radius of their St. Louis, MO headquarters. [rarediseases.info.nih.gov]

Finally, behavioral problems and anxiety can also be challenging to manage and may require specific treatments. [frontiersin.org]

Each of the present patients experienced their initial seizures during the neonatal period, and only seizures of patient 1 disappeared without treatment. [karger.com]

At 4 years he has grade 4 VUR with no haematuria or proteinuria and is currently receiving antibiotic treatment. His kidneys did not show any morphological or structural anomalies by echography. [jmg.bmj.com]

The parents were given genetic counseling regarding the nature of the genetic condition, genotypic-phenotypic correlation, and prognosis in terms of the individual anomalies and possibility of developmental delay. [ipcares.org]

Clinical relevance of copy number variations (CNVs) in intellectual disability (ID) is well-established, for which CNVs constitute the leading genetic etiology. [karger.com]

Discussion Our workup followed three pathways: first, looking for the cause of desaturation while feeding; second, defining the clinical phenotype; and third, looking for an underlying genetic etiology of the multiple congenital anomalies. [ipcares.org]

These features are often present in frontal lobe seizures of different etiologies (83), but the absence of NCSE and of the typical EEG features of r(20) syndrome are helpful in the diagnosis. [frontiersin.org]

A third hypothesis about r(20) pathophysiology regards the intrinsic instability of ring chromosomes. A ring chromosome is unstable during cell division, due to its circular nature. [frontiersin.org]

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