Monosomy 9p

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Total: 4

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PMID (PMCID)
25036174	MIXED_SAMPLE	Child
	Case report. Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome.
	Abreu LS, Brassesco MS, Moreira ML, Pina-Neto JM. Genet Mol Res. 2014;13(2):4302-10.
	We report two similarly affected cousins (children of monozygotic twin sisters) with phenotypic features consistent with 9p deletion syndrome, including dysmorphic craniofacial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures and long philtrum), intellectual disability and disorders of sex development.
23633410	FEMALE	Infant, Newborn
	Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
	la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tumer Z. Am J Med Genet A. 2013;161A(6):1447-52.
	The patient has the features of both the Kleefstra syndrome and the chromosome 9p-syndrome, including trigonocephaly, long philtrum, hypertelorism, and retro-/micronagthia.
8488873	FEMALE	Infant, Newborn
	Molecular and cytogenetic characterization of 9p- abnormalities.
	Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL. Am J Med Genet. 1993;46(3):288-92.
	The phenotype of the patients was not specifically suggestive of the 9p-syndrome in the absence of trigonocephaly and long philtrum as cardinal manifestations.
6680318	FEMALE	Infant
	An additional case of 9p syndrome.
	Latos-Bielenska A, Krawczynski M, Ignys I, Wolnik-Brzozowska D. Acta Anthropogenet. 1983;7(4):391-5.
	A new case of 9p- syndrome is presented in a 18 months old girl with typical clinical features of the syndrome: marked delay in psychomotor development, muscle hypotonia, trigonocephaly, up-slanting palpebral fissures, short nose with anteverted nostrils, long philtrum, low-set and hypoplastic auricles and others.