Turner syndrome, constitutional monosomy X, Turner-Albright syndrome, Ullrich-Turner syndrome
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Chromosomal diseases
Articles
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monosomy X
25 January 2005 -
TAR syndrome
12 October 2007thrombocytopenia-absent-radius syndrome, thrombocytopenia-absent tetraphocomelia syndrome
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Wolf-Hirschhorn syndrome
5 January 2008WHS
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trisomy 21
12 November 2004Down syndrome, trisomy 21 disease, trisomy 21 syndrome
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Klinefelter syndrome
13 June 2003Klinefelter’s syndrome
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del(21)(q22) syndrome
30 October 201021q22 deletion syndrome
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mosaic trisomy 9 syndrome
29 June 2005Synopsis
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7q terminal deletion syndrome
11 July 2010Clinical synopsis
esophageal stenosis
growth retardation
microcephaly
coloboma of papilla
ptosis
hearing loss
urinary tract anomalies
partial agenesis of sacrum
hypotonia
neuropsychomotor delay
odontoid hypoplasia
esophageal stenosis (#20601258#)
Anomalies
7q terminal deletion del(7)(q35—>qter) (#20601258#)
References
Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin (...) -
17p13.3 deletion syndrome
11 July 2010Miller-Dieker syndrome, MDS,
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Smith-Magenis syndrome
20 November 2003Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by distinct craniofacial features and neurobehavioral abnormalities usually associated with an interstitial deletion in 17p11.2.
Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies.
SMS is often due to a chromosomal deletion (...)
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