13
Sep
1q31.2 Deletion
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1q31.2 Deletion Deletions of the 1q31.2 segment results in a condition called Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT). HPT-JT is characterized by parathyroid tumors, ossifying fibromas of the jaw bones, kidney lesions, and uterine lesions1. These features can be attributed to the deletion of the CDC73 gene, which is included in the... Read More
11
Sep
1q41 Deletion Involving the TGFβ Gene
1q41 Deletion Involving the TGFβ Gene Deletions of 1q41 are not very common, but individuals may present as a well characterized syndrome: Loeys-Dietz Syndrome (LDS). LDS is caused by variants in the gene TGFβ, which is located within the 1q41 segment1. Although LDS is a well characterized connective tissue disorder... Read More
17
May
Deleción 1p31.3
Deleción 1p31.3 La condición más conocida causada por la deleción del brazo corto del cromosoma 1 es la deleción 1p36. Sin embargo, estudios recientes muestran que varios síndromes más pueden atribuirse a deleciónes de otros segmentos del 1p. Una de estas condiciones es la deleción del segmento 1p31.3. Este segmento... Read More
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... Read More
13
Mar
1p36 Deletion Syndrome
1p36 Deletion Syndrome (Monosomy 1p36) Occurring in 1 out of 5,000-10,000 live births, monosomy 1p36 is the most common subtelomeric deletion syndrome in humans1. The first reports of individuals with partial monosomy of chromosome 1p36 were published in the early 1980s2. Identifying patients with monosomy 1p36 may be difficult because... Read More
