Growth retardation was present in about 30%, and microcephaly in about 50%, of all individuals. Palatal anomalies were rare. Strabismus was present in about 50% of cases with refractive errors present in about one-third. [omim.org]

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters. Am J Med Genet. 2001;101:65–69. [PubMed] [Google Scholar] 9. Schinzel A. [ncbi.nlm.nih.gov]

Figure 3. a) Front-view of patient’s hands presenting camptodactyly and adducted thumbs, b) frontview of feet, showing adduction of toes. [scielo.org.ar]

Therefore, a total of four short arms (18ps) are present in cells of the body rather than the normal two, resulting in the symptoms and physical findings that characterize this disorder. [rarediseases.org]

Wherever, when the population genetic structure is present, the data are no longer independent. [sag.org.ar]

• Feeding Difficulties

  This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. [medlineplus.gov]

  A clear majority had neonatal complications including feeding difficulties and respiratory distress, and jaundice in about half of the chart-reviewed cohort. Hypoglycemia and bradycardia were rarely seen. [omim.org]

  difficulties 56 - Microcephaly 53 + Strabismus 45 + Cryptorchidism 39 - Scoliosis/kyphosis 37 - Recurrent otitis media 35 - Constipation 32 - Growth retardation 30 + Jaundice 28 + Foot anomalies 23 + Little is known about the behaviour of patients with [ncbi.nlm.nih.gov]

  Also, feeding difficulties and musculoskeletal disorders were reported. Unlike to the lack of sex predisposition, the literature reported a majority of female patients, whereas in this study, we present a male patient. [scielo.org.ar]

• Heart Murmur

  In addition, some individuals may exhibit a heart murmur and/or, in rare cases, failure of the testes to descend into the scrotum (cryptorchidism) in males. [rarediseases.org]

• Low Set Ears

  Tetrasomy 18p is associated with a distinctive facial appearance that can include unusually shaped and low-set ears, a small mouth, a flat area between the upper lip and the nose (philtrum), and a thin upper lip. [medlineplus.gov]

  She presented a triangular facies, short palpebral fissures, small asymmetric low-set ears orientated posteriorly with small ear lobes and a particular helix (Figure 1), right preauricular pit and medial posterior cleft palate. [ncbi.nlm.nih.gov]

  Affected infants may also have an abnormally small mouth; a highly arched roof of the mouth (palate); an unusually small jaw (micrognathia); malformed (dysplastic), low-set ears; and/or a pinched nose. [rarediseases.org]

  Figure 2. a) Full-body image showing postural defects and low-set ears. b) front view remarking high nasal bridge and large philtrum c) lateral view showing low-set, malformed ears, micrognathia and prognathism. [scielo.org.ar]

• Dolichocephaly

  The fibrous joint (sagittal suture) between the bones that form the sides of the skull (parietal bones) may close prematurely (dolichocephaly), causing the head to appear unusually long and narrow; the head may also be abnormally small (microcephaly), [rarediseases.org]

• Coxa Valga

  These may include a sideways curvative of the spine (scoliosis), sometimes occurring in association with a front-to-back curvative of the spine (kyphosis); an unusually small hipbone; and/or additional hip deformities (e.g., coxa valga). [rarediseases.org]

• Suggestibility

  The results suggest that the proposed method provides control of FDR and has more power than other methods for multiplicity correction used in association mapping. [sag.org.ar]

  Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. [rarediseases.org]

  […] diagnóstico genético preimplantatorio en enfermedades raras y otras enfermedades genéticas: [Conferencia] Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkariaArtículo2009 A Novel Point Variant in NTRK3, R645C, Suggests [bibliometria.us.es]

• Cryptorchidism

  Males with tetrasomy 18p may be born with undescended testes (cryptorchidism) or the opening of the urethra on the underside of the penis (hypospadias). [medlineplus.gov]

  […] author's thorough review of the current literature on the subject expanded the classical phenotype, adding neonatal jaundice and respiratory distress, recurrent otitis media, hearing loss, seizures, refractive errors, constipation, gastroesophageal reflux, cryptorchidism [ncbi.nlm.nih.gov]

  Cryptorchidism was seen in 39% of males. Hypospadias and other congenital malformations were rare. History of constipation was present in one-third of patients. Other GI abnormalities were less common. [omim.org]

  In addition, some individuals may exhibit a heart murmur and/or, in rare cases, failure of the testes to descend into the scrotum (cryptorchidism) in males. [rarediseases.org]

• Abnormal Reflex

  As a result, affected individuals may exhibit several neuromuscular abnormalities, such as increased muscle tone (hypertonia); increased reflex reactions (hyperreflexia), including an abnormal reflex that consists of repeated flexing and relaxing of the [rarediseases.org]

• Abnormal Renal Function

  As a result, the kidneys may be compressed by other organs that are also in the abdominal cavity, potentially causing abnormal renal function. [rarediseases.org]

Standard Therapies Treatment The treatment of Chromosome 18, Tetrasomy 18p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

[…] landscape of enteric nervous system development Clinical EpigeneticsArtículo2021 Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies Open Ophthalmology JournalArtículo2021 Maternal effects induced by oral digoxin during treatment [bibliometria.us.es]

The latter will allow the patient to receive early and proper treatment, specifically for the ophthalmological and audiological features. Also, neurological, cardiac and gastrointestinal follow-ups would prevent the described clinical implications. [scielo.org.ar]

Also, this type of investigation could offer critical information to the practitioner for prognosis of patient and the correct appreciation of the recurrence risk of a certain genetic condition. [ncbi.nlm.nih.gov]

Future reports will allow to establish accurate data on its incidence and prognosis, raising awareness of its relevance to physicians. [scielo.org.ar]

At the suspicion of this etiology, it is important to detect small supernumerary i(18p) by cytogenetic analysis, FISH, PCR, MLPA and, in some cases, array techniques. Parental testing is highly recommended. [scielo.org.ar]

Corrección intrauterina de mielomeningocele: Experiencia del programa de medicina y terapia fetal del Hospital Universitario Virgen del Rocío REVISTA ESPANOLA DE ANESTESIOLOGIA Y REANIMACIONRevisión2013 Hirschsprung's disease as a model of complex genetic etiology [bibliometria.us.es]

[…] characteristics of autosomal recessive bestrophinopathy in a Spanish patient EUROPEAN JOURNAL OF OPHTHALMOLOGYCorrección2021 Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological [bibliometria.us.es]

With current advances in preventive and interventional procedures, patients with rare chromosomal disorders can live longer. [ncbi.nlm.nih.gov]

[…] rapidly occurred, from a request for the complete suspension of clinical application (that is, the prohibition of implanting a genetically modified embryo with CRISP in the uterus) till the approval of certainlines of basic research with similarly great preventions [sag.org.ar]

Also, neurological, cardiac and gastrointestinal follow-ups would prevent the described clinical implications. It is important to give genetic counseling to the guardians. BIBLIOGRAPHY 1. [scielo.org.ar]

Prenatal Diagnosis and Outcome FETAL DIAGNOSIS AND THERAPYArtículo2011 Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing PLOS ONEArtículo2011 Novel mutations at RET ligand genes preventing [bibliometria.us.es]