14
Mar

2q33 Deletion

2q33 Deletion The chromosomal segment 2q33 includes several genes. One of these genes – SATB2 is a key transcription factor that aids in neural development and activates several other genes simultaneously. When it is absent, cortico-cortical neurons cannot be specified and axons cannot cross the corpus callosum1. Defects in this gene cause the SATB2-associated syndrome...
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14
Mar

1q43-q44 Deletion Syndrome

1q43-q44 Deletion Syndrome Chromosome 1q44 is a 6 Mb long terminal segment of the long arm of chromosome 11. The more proximal segment 1q43 is approximately the same size. There are at least 230 reports on patients having isolated deletions 1q43q44 (or 1q44) and more than 130 reports when deletions of this area were accompanied...
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14
Mar

Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions

The gene NKX2-1, located at the segment q13 of chromosome 14 is highly expressed in the thyroid, lungs, and pituitary glands. Previous literature has shown that pathogenic variants and heterozygous deletions of NKX2-1 are associated with a complex phenotype involving choreoathetosis, respiratory problems, and hypothyroidism—a triad of symptoms called brain-lung-thyroid syndrome (BLTS). Patients with BLTS...
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14
Mar

1q21.1 Deletion Syndrome

Deletion 1q21.1 The genetic size of the whole chromosome 1 is ~246 Mb. The segment 1q21.1 occupies only ~4 Mb (from ~141.5 Mb to 145.9 Mb) and both deletions and duplications within this segment became recognizable only for the last years when molecular cytogenetic methods became available. There are two conditions, related to deletions 1q21.1....
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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 characteristic dysmorphic features are sometimes...
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