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  • fluorescence in-situ hybri
  • Since it was diagnosed in 1980s using the amniocentesis, high-resolution G-banding, chromosome-specific fluorescence in-situ hybridization (FISH) with probes for 1p and by subtelomeric probe screening, knowledge on this chromosomal aberration have greatly increased and clear clinical descriptions were consequently laid. (brighthub.com)
  • 1p36
  • It was also found out from recent studies that 50%-75% of those with 1p36 deletion are more prone to congenital heart diseases and observed to possess structural heart defects such as ventricular and atrial abnormalities and heart valvular defects to name a few. (brighthub.com)
  • In behavioral context, children with 1p36 deletions have poor social mechanisms commonly observed as temper tantrums, biting of hands and even the wrists. (brighthub.com)
  • 16p11.2
  • Lead by research leader Timothy P.L. Roberts, PhD, vice chair of Radiology Research at CHOP and a researcher at CHOP's Center for Autism Research , scientists analyzed 115 children: 65 with copy number variants (43 with the 16p11.2 deletion and 23 with the 16p11.2 duplication) and 49 healthy controls. (highlighthealth.com)
  • Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. (highlighthealth.com)
  • Microdeletions
  • The Y chromosome macro-and microdeletions were detected in 61 (7.5%) infertile men. (deepdyve.com)
  • On the whole, the frequencies of Yq microdeletions and the genophenotypic correlations characteristic of various AZF deletion types agree with the relevant published data. (deepdyve.com)
  • It was demonstrated that the breakpoints were localized between AZFa and AZFb regions proximally to AZFb+c microdeletions for the majority of cytogenetically detectable deletions of the Y chromosome long arm. (deepdyve.com)
  • 22q11.2
  • Taking the 1400 papers about the 22q11.2 deletion and the clinical conditions with which it was associated, we generate a network of papers tied by citations for each of the last 35 years. (repec.org)
  • The chromosome 22q11.2 deletion: From the unification of biomedical fields to a new kind of genetic condition ," Social Science & Medicine , Elsevier, vol. 75(9), pages 1633-1641. (repec.org)
  • children
  • A new study suggests that detecting this genetic deletion during the initial evaluation of children with neuroblastoma may indicate to physicians that they should recommend a more aggressive regimen of chemotherapy to fight the cancer. (bio-medicine.org)
  • A study team of radiologists and psychologists has found that children born with DNA copy number deletions in a specific region on chromosome 16 previously linked to neurodevelopmental problems show measurable delays in processing sound and language . (highlighthealth.com)
  • In children with the deletion, researchers found a significant delay of 23 milliseconds compared to the healthy children. (highlighthealth.com)
  • Most cases are not inherited , but people can pass the deletion on to their children. (nih.gov)