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Oculocutaneous Albinism Type 1
The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11, long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1.[1]
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Milroy Disease
It has been linked to a mutations in the ‘forkhead’ family transcription factor (FOXC2) gene located on the long arm of chromosome 16 (16q24.3). … arm (q) on chromosome 5 (5q35.3). … is an autosomal dominant condition caused by a mutation in the FLT4 gene which encodes of the vascular endothelial growth factor receptor 3 (VEGFR-3) gene located on the long … [2]
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Cranioectodermal Dysplasia
The gene IFT122 is located on the long arm of chromosome 3 (3q21-3q24). … The gene IFT43 lies on the Watson (plus) strand of the long arm of chromosome 14 (14q24.3). … The gene is located on the short arm of chromosome 2 (2p24.1–2p24.3) The gene lies on the Crick (minus) strand and is 79,745 bases in length.[3]
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Angelman Syndrome
Angelman syndrome results from the maternal gene deletion of the locus UBE3A located at the long arm of chromosome 15 (15q11-13). … Cause Angelman syndrome results from the maternal gene deletion of the locus UBE3A located at the long arm of chromosome 15 (15q11-13). … Fluorescence in situ hybridization (FISH): This fluorescence assay will demonstrate the defective long arm of chromosome 15 in Angelman syndrome.[4]
[5]
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Hereditary Lymphedema
It has been linked to a mutations in the ‘forkhead’ family transcription factor (FOXC2) gene located on the long arm of chromosome 16 (16q24.3). … arm (q) on chromosome 5 (5q35.3). … is an autosomal dominant condition caused by a mutation in the FLT4 gene which encodes of the vascular endothelial growth factor receptor 3 (VEGFR-3) gene located on the long … [6]
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Holt Oram Syndrome
The principal mutation involves the TBX5 gene on the long arm of chromosome 12, whose role is still undefined completely. … It is an autosomal dominant disease, with mutations occurring on the long arm of chromosome 12, and patients present with congenital heart disease accompanied with deformities … The most commonly described mutations in this syndrome occur on the long arm of chromosome 12 (12q24.1), where inactivation of the transcription factor TBX5 occurs, through … [7]
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Dyschromatosis symmetrica hereditaria
This gene is located on the long arm of chromosome 1 (1q21)
Skin lesion … [8]
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Cat Eye Syndrome
Cat eye syndrome (CES), or Schmid–Fraccaro syndrome, is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present … [9]
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Fraser Syndrome
All the chromosome come with a short arm labeled as “p” and the long arm labeled as “p”. … The mutant gene that causes the condition has been traced to the 4q21 (long arm of the chromosome 4). … Therefore for instance, the “chromosome 4q21” refers to band 21 located on the long arm of the 4th chromosome.[10]
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Plasma Cell Leukemia
Using fluorescence in situ hybridization techniques, losses in the long arm of chromosome 13 (13q) and deletion of one the homologous chromosomes 13 (monosmy 13) exist in … Gains in long arm of chromosome 1 (1q) are present in approximately one-half of the patients determined by FISH, but in all patients by comparative genomic hybridization.[11]