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https://rarediseases.info.nih.gov/diseases/1340/chromosome-4q-deletion
Mar 05, 2015 · Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell.The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved.
https://internationalpain.org/4-q-deletion-syndrome-ipain/
What is 4Q Deletion Syndrome. Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome. Deletions may be in the middle of the chromosome arm (“interstitial”) or at the end “terminal”) and have varying effects.
https://rarediseases.org/rare-diseases/chromosome-4-monosomy-4q/
Chromosome 4q deletion is a rare disorder that is present at birth and is estimated to occur in 1 out of 100,000 people. Chromosome 4q deletion can sometimes be identified before birth by ultrasound and prenatal chromosome analysis.
https://www.rarechromo.org/media/information/Chromosome%20%204/4q%20deletions%20between%204q21and%204q31%20FTNW.pdf
deletion from chromosome 4q between band 4q21 at one end and 4q31 at the other end (marked in the diagram on the facing page) have an interstitial deletion. Interstitial means that the chromosome has broken in two places, the intervening segment has been …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371530/
Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental ...
https://omim.org/entry/613509
613509 - CHROMOSOME 4q21 DELETION SYNDROME Harada et al. (2002) described a 6.7-year-old Japanese girl with severe postnatal short stature, dolichocephaly, hypertelorism, long philtrum, small mouth, defect of bilateral lower incisors, pathologic attrition of all teeth, bilateral sensorineural deafness with bilateral ear canal stenosis, and muscle hypotonia.
https://www.rarechromo.org/media/information/Chromosome%20%204/4q%20deletions%20between%204q21%20and%204q22%20FTNP.pdf
that they will need support throughout their lives. Why did this happen? A chromosome 4q deletion can occur as a result of rearrangements in one parent’s own chromosomes or it can happen out of the blue, so the child with the chromosome disorder is the only person in the family with rearranged chromosomes. The deletion is then termed de novo ...
https://rarediseases.info.nih.gov/diseases/5347/chromosome-4q-duplication
May 18, 2016 · Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4.The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, …
https://rareshare.org/communities/chromosome-4q-deletion-syndrome?page=2
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“interstitial”) or at the end (“terminal”), and have varying effects.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077152/
Jun 25, 2014 · Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature ... the ongoing reporting of precisely defined deletion intervals with higher resolution technologies will support eventual refinement and possible clarification of the genes and pathways responsible for the broad ...Cited by: 14
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