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Proximal Trisomy 14q
Proximal Duplication 14q

Presentation

Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). [content.sciendo.com]

At 18 months, he presented with global developmental delay including delayed sitting; at 2 years delay in speech was recorded. [lidsen.com]

Here, we present the cases of 2 patients with partial trisomy 4p and partial trisomy 14q resulting from a 3:1 segregation of a maternal balanced t(4;14) translocation. [ncbi.nlm.nih.gov]

Entire Body System

  • Epilepsy

    Partial monosomy Xq(Xq23→qter) and trisomy 4p(4p15.33→pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. Brain Dev. 2008;30:425–429. [PubMed] [Google Scholar] [ncbi.nlm.nih.gov]

  • Trisomy 21

    HPE has also been reported in patients with trisomies other than trisomies 13 and 18, including a small number with trisomy 21 [4-9]. [oatext.com]

    […] partielles et les trisomies mosaïques font partie des trisomies incomplètes. [btb.termiumplus.gc.ca]

  • Infertility

    Infertility in carriers of two bisatellited marker chromosomes. Clin Genet. 1993; 44: 71-75. [CrossRef] Armanet N, Tosca L, Brisset S, Liehr T, Tachdjian G. Small supernumerary marker chromosomes in human infertility. [lidsen.com]

Gastrointestinal

  • Failure to Thrive

    The characteristic phenotypes associated with proximal trisomy 14 are developmental and growth retardation, minor facial anomalies, microcephaly, and failure to thrive. [ncbi.nlm.nih.gov]

  • Diarrhea

    Case 1 The patient was a 2-month-old girl who was admitted due to persistent diarrhea for 3 days. She was born to a 31-yr-old father and a 30-yr-old mother via vaginal delivery at 38 gestational weeks and 3 days. [ncbi.nlm.nih.gov]

Eyes

  • Strabismus

    He also had the following clinical features: microcephaly, strabismus, delay in tooth eruption, mild intellectual developmental delay, slender fingers, a micropenis, and bilateral ectopic testicles (Figure 2, Table 1). [lidsen.com]

Skin

  • Eruptions

    He also had the following clinical features: microcephaly, strabismus, delay in tooth eruption, mild intellectual developmental delay, slender fingers, a micropenis, and bilateral ectopic testicles (Figure 2, Table 1). [lidsen.com]

Ears

  • Low Set Ears

    A few minor phenotypic abnormalities, including short palpebral fissure, low-set ears, a round face, asymmetric eyes, small ears, a short neck, and finger/toe abnormalities were also observed in these patients. CASE REPORT 1. [ncbi.nlm.nih.gov]

Psychiatrical

  • Behavior Disorder

    The phenotype of trisomy X first described by Jacobs was limited to reduced intelligence in 70% of cases, and sometimes to behavioral disorders. [lidsen.com]

Face, Head & Neck

  • Round Face

    A few minor phenotypic abnormalities, including short palpebral fissure, low-set ears, a round face, asymmetric eyes, small ears, a short neck, and finger/toe abnormalities were also observed in these patients. CASE REPORT 1. [ncbi.nlm.nih.gov]

Neurologic

  • Global Developmental Delay

    At 18 months, he presented with global developmental delay including delayed sitting; at 2 years delay in speech was recorded. [lidsen.com]

  • Neglect

    However, the rarity of this cytogenetic entity should not allow us to neglect this potential risk. [lidsen.com]

  • Convulsions

    This infant passed away at 1 month old as a consequence of multiple cyanotic incidents due to convulsion and aspiration and no autopsy was performed to determine other eventually potential causes of death. [lidsen.com]

Treatment

Standard Therapies Treatment The treatment of Chromosome 15, Distal Trisomy 15q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Statistics and Research Methods Stem Cell Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment [jamanetwork.com]

In particular, the strong response to growth hormone therapy, which led to 4 cm of growth after only 4 months of therapy in case 2, could be very informative for developing a treatment strategy for the patient described in case 1 as well as for patients [ncbi.nlm.nih.gov]

Prognosis

Gene mutation and linkage analysis on human chromosome 14 has demonstrated the association of these genes with various pathologies; sometimes tumoral correlated with a poor prognosis [34,35,36,37,38,39]. [lidsen.com]

Etiology

An etiology of testicular cancer: Association with congenital abnormalities, age at puberty, infertility, and exercise. BMJ. 1994; 308: 1393–1399. [CrossRef] Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G. [lidsen.com]

Epidemiology

Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD, et al. (2007) An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004; p. 340-347. [oatext.com]

Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet Cytogenet. 1987; 28: 55-76. [CrossRef] Secker-Walker LM, Fitchett M. Constitutional and acquired trisomy 8. [lidsen.com]

Prevention

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

In addition, physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]

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