Tag

chromosome deletion

22
Jun

7q21.3 Deletion

7q21.3 Deletion Deletion of the q21 segment on the long arm of chromosome 7 causes a relatively rare type of limb malformation called ectrodactyly. Ectrodactyly, also called split-hand/foot malformation (SHFM), presents when there is a failure to maintain signaling or a portion of the apical ectodermal ridge during embryogenesis1. When...
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22
Jun

15q26 Deletion

15q26 Deletion 15q26 is the most distal segment of the long arm of chromosome 15. Its size is ~13 Mb. This segment is subdivided into 3 sub-segments: 15q26.1, 15q26.2 and 15q26.3. Almost all deletions of 15q26 are terminal, and isolated deletions of 15q26.3 are the most common variant. Individuals with...
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13
Apr

Deleción 1p36 (Monosomía 1p36)

Síndrome de Deleción 1p36 Ocurriendo en 1 de cada 5,000 a 10,000 nacimientos vivos, la monosomía 1p36 es el síndrome de deleción subtelomérica más común en humanos1. Los primeros informes de individuos con monosomía parcial del cromosoma 1p36 se publicaron a principios de la década de 19802. Identificar pacientes con...
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02
Apr

6q25.1 Deletion

6q25.1 Deletion Deletions of the 6q25.1 region of the long arm of chromosome 6 constitute a specific syndrome. The main findings of this condition are defects of cardiac valves caused by the loss of the TAB2 gene, which is located in this segment. The protein encoded by the TAB2 gene...
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21
Mar

6q26-6q27 Deletions

Deletions 6q26-6q27 Bands 6q26 and 6q27 are the most distal segments of the long arm of chromosome 6. Many patients have been identified as having deletions in this area. Isolated deletions of  6q26 are interstitial, while deletions involving 6q27 are mostly terminal. A majority of these deletions occur de novo,...
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