Of the genes that fall within the deleted region in our patient (Additional file 1: Table  S1), several are associated with a particular phenotype. [molecularcytogenetics.biomedcentral.com]

Deletion of the short arm of chromosome 9. A clinically recognisable entity. Eur J Pediatr. 1980;134:201-04. Deroover J, et al. Partial monosomy of the short arm of chromosome 9: a distinct clinical entity. Hum Genet. 1978;44:195-200. [rarediseases.org]

A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9. [ncbi.nlm.nih.gov]

Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing ( deleted ) copy of genetic material on the short arm (p) of chromosome 9. [rarediseases.info.nih.gov]

Short arm deletion of chromosome 12. Report ot two new cases. Humangenetik., 28: 335-342. 85. PATAU, K.; Smith, D.W.; Therman, E.; Inhorn, S.L.; Wagner, H.P. \u2013 1960: Multiple congenital anomaly caused by an extra autosome. [passeidireto.com]

FISH analysis aided in determining the additional material consisted of an inverted duplication with a terminal deletion of the short arm. [molecularcytogenetics.biomedcentral.com]

posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368 11 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520 12 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800 13 abnormality of the antihelix [malacards.org]

Clinical examination showed a moon shaped face, flat occi-put, epicanthus, low nasal bridge, but also trigonocephaly, long philtrum, widely spaced nipples, dolichomesophalangy, proximally placed thumbs, and five whorls (fig 2G). [publications.fondationlejeune.org]

Such abnormalities have included sudden episodes of uncontrolled electrical activity in the brain (seizures), widely spaced nipples, abnormal curvature of the spine, and/or, more rarely, incomplete closure (clefting) of the palate (cleft palate), bony [rarediseases.org]

Source Accession 1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249 2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470 3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263 4 hypertelorism [malacards.org]

There was apparent hypertelorism but a decreased interorbital distance was ascertained by radiography, small alae nasi, truncal hypotonia, and hypertonia of the extremities. [publications.fondationlejeune.org]

He had multiple craniofacial dysmorphic features such as prominent metopic ridge with trigonocephalic head and flat occiput, midfacial hypoplasia, bilateral epicanthal folds, high arched eyebrows, downslanting palpebral fissures, ocular hypertelorism, [hindawi.com]

Hypertelorism was present in 4 of 6 patient, which is opposite to the hypotelorism typical of non-syndromic trigonocephaly. [link.springer.com]

Additional characteristic craniofacial malformations may include widely spaced eyes (ocular hypertelorism); upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); and/or highly [rarediseases.org]

[…] disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism [ncbi.nlm.nih.gov]

[…] 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 [orpha.net]

Gonadal dysgenesis with sex reversal, hypospadias, cryptorchidism, and malformed external genitalia have also been reported in several previous cases of deletion 9p syndrome [2, 4]. [hindawi.com]

In affected males, such abnormalities may include a small penis (micropenis); undescended testes (cryptorchidism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. [rarediseases.org]