| Monosomy 9p | |
|---|---|
| Other names | 9p deletion syndrome |
| Specialty | Medical genetics  |
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9. Symptoms include microgenitalia, intellectual disability with microcephaly and dysmorphic features.
The location has recently been narrowed to 9p22.2-p23.[1]
Various clinical features have been associated with this disease including trigonocephaly, flattened occiput, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, and hypertonia.[2]
References
- ^ Kawara H, Yamamoto T, Harada N, et al. (February 2006). "Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23". Am. J. Med. Genet. A. 140 (4): 373–7. doi:10.1002/ajmg.a.31094. PMID 16419130.
- ^ "OMIM Entry - # 158170 - CHROMOSOME 9p DELETION SYNDROME". www.omim.org. Retrieved 2017-03-10.
External links
| Classification | |
|---|---|
| External resources |