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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.[1]
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Usher Syndrome
Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”. … The gene associated with Usher syndrome type 1D has been mapped to the long arm of chromosome 10 (10q). … The gene associated with Usher syndrome type IIA has been mapped to the long arm of chromosome 1 (1q41).[2]
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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[3]
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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[4]
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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.[5]
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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).[6]
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Myelodysplasia
arm of chromosome 5 and loss or gain of chromosome 5; analysis of 200 interphase cells. … arm of chromosome 7; analysis of 200 interphase cells A single-color FISH analysis performed on interphase cells using the probe for the alpha-satellite region of chromosome … FISH analysis performed on interphase nuclei using probes for the D5S23 and D5S721 loci (5p15.2) and the EGR1 gene (5q31) which can detect deletions or duplications of the long[7]
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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[8]
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Dyschromatosis symmetrica hereditaria
This gene is located on the long arm of chromosome 1 (1q21) Skin lesion[9]
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Agammaglobulinemia
Similarly 14q32.33 refers to band 32.33 on the long arm of chromosome 14, and 9q34.13 refers to band 34.13 on the long arm of chromosome 9. … Each chromosome has a short arm designated p and a long arm designated q. … For example, chromosome 21q11.21 refers to band 11.21 on the long arm of chromosome 21.[10]